SEARCH · PubMed Health

Results for “Musculoskeletal Abnormalities”

Explore indexed PubMed citations for clinical trials, systematic reviews and public health research. Read source abstracts and follow each citation to its original PubMed record.

Quote a phrase for an exact phrase match. Source license links do not imply unrestricted reuse.

At least 73 records · Page 4Linked to original sources

PubMedDate not supplied

Malformation of the lumbosacral spinal cord in a case of sacral agenesis.

Agenesis of the sacrum is a rare anomaly that is associated with numerous visceral abnormalities, spinal cord malformation, and lower limb defects. A fatal case of sacral and lower lumbar agenesis in a 3-day-old female infant born at 38 weeks of gestation is reported. The extraneural malformations comprised an imperforate anus, a rectovaginal fistula, and musculoskeletal abnormalities, including several thoracocervical hemivertebrae and aplasia of the sacrum and the fourth and fifth lumbar vertebrae. The cervical and high thoracic spinal cord segments were normal. Disruption of secondary neurulation, possibly due to notochord dysfunction, was suggested by malformation of the ventral half of the lower thoracic spinal cord with relative preservation of the dorsal horns and, more caudally, by loss of all normal histological landmarks, including the central canal. Neither skeletal muscle nor myoblasts were found in muscle compartments that would normally have received motor innervation from the levels of the spinal cord from which anterior horn cells were absent, indicating parallel, segmental failure of myotomal differentiation in the caudal eminence.

Abnormalities, Multiple↗

PubMedDate not supplied

Antenatal sonographic diagnosis of clubfoot: a six-year experience.

In the period 1988 through 1993, 6351 pregnant women were referred to the Department of Obstetrics and Gynaecology, University "La Sapienza", Roma, for suspected fetal anomalies or maternofetal problems. All underwent serial transabdominal and/or transvaginal ultrasound scanning, which revealed a total of 235 fetuses with hydrocephalus, cardiac, or musculoskeletal malformations. Forty-one clubfeet were detected in 27 pregnancies in the early part of the second trimester of pregnancy. Of these, 14 feet in eight patients were isolated, and were classified as idiopathic. A clubfoot was associated with neural tube defects in six patients, with anomalies of the urinary and/or digestive system in a further six, with a cystic hygroma in two, and with other musculoskeletal abnormalities in the other six patients. Amniocentesis revealed an abnormal karyotype in six fetuses (22.2%). In only two cases was oligohydramnios present. In both these patients, a fetal urinary tract malformation was present Polyhydramnios was found in 18 cases, and a normal amount of amniotic fluid was found in the remaining seven cases. Polyhydramnios was present in six of the eight idiopathic clubfoot fetuses. Clubfoot is associated with musculoskeletal and visceral anomalies in a high proportion of cases. The association of clubfoot with polyhydramnios in a high proportion of cases does not support the hypothesis of intrauterine moulding as an etiological factor in its development. Ultrasonographical prenatal detection of a clubfoot should prompt amniocentesis, as the condition is associated with an abnormal karyotype in a significant proportion of cases.

Abnormalities, Multiple↗

PubMed2001

Valproic acid embryopathy: report of two siblings with further expansion of the phenotypic abnormalities and a review of the literature.

Fetal Valproate Syndrome (FVS) results from prenatal exposure to valproic acid (VPA). It is characterized by a distinctive facial appearance, a cluster of minor and major anomalies, and central nervous system dysfunction. In this study, two siblings who were exposed to monotherapy with VPA are described with documentation of long-term follow up. Both children had craniofacial findings, multiple systemic and orthopedic abnormalities, an overgrowth pattern, and developmental deficits. The literature from 1978-2000 is reviewed. A total of 69 cases that were solely exposed to VPA with adequate phenotypic description were identified. The clinical manifestations of FVS encompass a wide spectrum of abnormalities including consistent facial phenotype, multiple systemic and orthopedic involvement, central nervous system dysfunction, and altered physical growth. The facial appearance is characterized by a small broad nose, small ears, flat philtrum, a long upper lip with shallow philtrum, and micro/retrognathia. In this review, 62% of the patients had musculoskeletal abnormalities, 30% had minor skin defects, 26% had cardiovascular abnormalities, 22% had genital abnormalities, and 16% had pulmonary abnormalities. Less frequently encountered abnormalities included brain, eye, kidney, and hearing defects. Neural tube defects were seen in 3% of the sample. Twelve percent of affected children died in infancy and 29% of surviving patients had developmental deficits/mental retardation. Although 15% of patients had growth retardation, an overgrowth pattern was seen in 9%. The data from this comprehensive review especially the developmental outcome should be added to the teratogenic risk, that arises in association with the use of VPA during pregnancy.

Abnormalities, Drug-Induced↗

PubMed2026

Expansion of the allelic and phenotypic spectrum of MED25-related developmental disorder: novel compound heterozygous variants with structural domain implications.

MED25-related developmental disorder (Basel-Vanagaite-Smirin-Yosef syndrome) is a rare autosomal recessive disorder, defined by severe neurodevelopmental delay, corpus callosum abnormalities, ocular involvement, epilepsy, and marked facial appearance. MED25 pathogenic variants interfere with the functioning of the Mediator complex, which is responsible for RNA polymerase II transcription. We report a 9-year-old girl who presents with significant global developmental delay, agenesis of the corpus callosum, congenital cataracts, epilepsy, hypotonia, musculoskeletal abnormalities, and typical craniofacial features. Trio-based whole-exome sequencing revealed compound heterozygous variants in MED25: a maternally transmitted truncating variant (c.1366 C > T; p.Gln456*) and a paternally inherited missense variant (c.430 C > T; p.Leu144Phe). The new classification of the missense variant as potentially pathogenic is supported by a systematic ACMG re-evaluation supported by segregation analysis, phenotypic specificity, computational prediction, and structural localization in the MED25 Activator Interaction Domain (ACID). Comparative phenotypic analyses show strong agreement with reported cases but add more data to fine-tune clinical spectrum. This article broadens the allelic and phenotypic spectrum of MED25-related developmental disorder and highlights the need for comprehensive evaluation across molecular, structural, and phenotypic pathways to elucidate variant signature in rare genetic disease models correctly.

Humans↗

PubMed1980

Central core disease and malignant hyperthermia syndrome.

In a detailed investigation of a family with musculoskeletal abnormalities observed in four generations, the proband and his mother were found to have central cores and multicores on histochemical and electron microscopic studies of biopsied muscle. A male sibling experienced a malignant hyperthermic reaction during hand surgery, and although similar reactions had not been observed in other family members, unexplained ventricular dysrhythmias did occur in the proband during surgery. The proband and his mother were subsequently shown to be susceptible to malignant hyperthermia by abnormal in vitro muscle contractures in the presence of halothane or caffeine. Physicians and dentists caring for patients with central core disease should be aware of its possible association with malignant hyperthermia. Complete evaluation of patients with central core disease should include in vitro muscle contracture studies for malignant hyperthermia since many of patients require surgery for musculoskeletal defects.

Child↗

PubMed1999

Magnetic resonance imaging in oncology: an overview.

This review discusses a growing area of imaging in oncology. Traditionally, the primary role of magnetic resonance imaging (MRI) has been in the investigation of neurological diseases and in the diagnosis of musculoskeletal abnormalities. With the increasing availability of MRI systems and with the advances in technology, the role of this modality out with these areas is rapidly expanding. This review outlines the areas where MRI has a specific role in the imaging of patients with cancer. In particular, emphasis is placed on areas outside of the central nervous and musculoskeletal systems. This review describes the areas where MRI may be advantageous over other imaging modalities such as computerised tomography (CT). Specific emphasis is placed on the staging of abdominal and pelvic malignancies, the detection of recurrence and the impact of MRI in hepatic imaging. In addition this article reviews the value of dynamic contrast enhanced MRI sequences, as well as the importance of newer organ specific MR contrast agents in hepatic and lymph node imaging.

Abdominal Neoplasms↗

PubMed1994

Contrast enhancement in musculoskeletal imaging. Current status.

This article discusses intravenous and intra-articular uses of contrast in cross-sectional imaging for the evaluation of musculoskeletal abnormalities. Emphasis will be placed upon the important traditional uses of contrast-enhanced computed tomography and the recent developments in contrast-enhanced magnetic resonance imaging.

Contrast Media↗

PubMed1998

Möbius syndrome: classification and grading system.

Möbius syndrome is characterized by facial abnormalities, but the limbs, chest wall, spine, and soft tissues also can be involved. There is no system for categorizing the various anomalies, grading phenotypic severity, designing treatment protocols, or assessing therapeutic results. This is a retrospective analysis of 27 patients with Möbius syndrome seen in our craniofacial unit from 1980 to 1994. We categorized and graded the cranial nerve deficits and diverse musculoskeletal abnormalities of the face, upper and lower limbs, and trunk. The first letter for each of five potentially involved structures, i.e., cranial nerve, lower limb, upper limb, face, and thorax, formed the acronym CLUFT. The structural and/or functional deficits for each component were graded on a scale of 0 to 3. Complete facial nerve paralysis was documented in 11 patients and paresis in 16. Facial nerve paralysis was bilaterally symmetric in 17 of 26 patients. Sixth nerve paralysis was present in 23 of 27 patients; other cranial nerves were affected in 8 of 27 patients. Lower limbs were involved in 10 of 27 patients and upper limbs in 7 of 27 patients. Facial structures were affected in 17 of 27 patients (e.g., microtia, micrognathia, and microphthalmia), and chest wall deformities were found in 8 of 27 patients (e.g., scoliosis, hypoplasia of the breast, pectoral muscles, and scapula). We noted that microtia primarily involved second pharyngeal arch-derived structures. The CLUFT system permits categorization and comparison of Möbius patients for phenotypic and management outcome studies. Documentation of the widespread structural anomalies suggests that pathogenesis involves vascular disruption; a detailed prenatal history is indicated.

Abnormalities, Multiple↗

PubMed2002

Locoregional control in infants with neuroblastoma: role of radiation therapy and late toxicity.

PURPOSE: To review patterns of failure in infants with neuroblastoma and determine late toxicity and efficacy of radiotherapy (RT) on locoregional control. MATERIALS AND METHODS: From 1955 to 1998, 53 children (35 males and 18 females) <1 year old with neuroblastoma were seen at our institution. Twenty-one (40%) were </=1 month of age (neonates). Seven congenital anomalies were seen in 4 children (atrial septal defect, pulmonary valve stenosis, and absent corpus callosum were seen in 1 patient each; the other child had atrial and ventricular septal defect, aortic arch hypoplasia, and mitral valve stenosis). Primary tumor was located in the adrenal gland in 26 (49%), abdomen/nonadrenal in 14 (26%), thorax in 9 (17%), neck in 2 (4%), and pelvis in 2 (4%). All infants were retrospectively staged according to the International Neuroblastoma Staging System (INSS); 8 had Stage 1, 7 Stage 2A, 6 Stage 2B, 15 Stage 3, 6 Stage 4, and 11 Stage 4S. All patients, except 11 with Stage 4S and 4 with Stage 4, had resection of the primary tumor. Sixteen infants had pathologic involvement of regional lymph nodes (LN+). Twenty patients received RT. Kilovoltage beams were used in 10, megavoltage photons in 9, and electrons in 1 child. Fifteen received RT to the primary site and regional nodes (postoperative 8, preoperative 7). Postoperative doses ranged from 15 to 25 Gy whereas preoperative doses ranged from 12 to 31 Gy using a median fraction size of 1.5 Gy. Chemotherapy was employed in 22 of 53 patients (42%) with the most common agents being cyclophosphamide in 22 and doxorubicin in 11. Median follow-up was 13.1 years (range, 2-41 years). RESULTS: Tumor control: The 5-year overall and freedom from progression rates were 79 +/- 9% and 81 +/- 11%; the locoregional control rate was 88 +/- 9%. INSS Stage was a prognostic factor for overall survival (p = 0.03) and freedom from progression (p = 0.035). Gender, age (</=1 month vs. >1 month), and primary site were not found to impact on survival or progression. None of the Stage 1, 2A, or 2B patients recurred. One of 15 Stage 3 and 5 of 6 Stage 4 children recurred (6 distant metastases, 4 local failure). Four of 6 (67%) LN+ patients treated with locoregional RT and 8 of 10 (80%) LN+ patients treated without RT were locally controlled. There was no isolated locoregional relapse. Two Stage 4S patients died of respiratory compromise secondary to hepatomegaly. RT toxicity: For the 20 infants who received RT, 13 are alive with long-term follow-up ranging from 9.3 to 41 years, median 23 years. The 10 and 15-year musculoskeletal toxicity rates were 38.5% and 47.3% for those receiving RT and 3.3% for no RT (p = 0.02, log-rank test). Five of 6 infants <6 months of age and 1 of 7 >/=6 months developed musculoskeletal toxicity. Musculoskeletal effects were seen in 6 RT patients and included bony hypoplasia in 6, scoliosis in 5, soft tissue hypoplasia in 3, slipped capital femoral epiphysis in 2, kyphosis in 1, and osteochondroma in 1. Three required orthopedic intervention, all receiving >/=20 Gy. One child developed bowel obstruction at 21 months and another developed a leiomyosarcoma in the treatment field 34 years after RT. CONCLUSION: Our study shows that most LN+ infants achieve locoregional control without RT. Infants <6 months receiving RT were the most susceptible to musculoskeletal abnormalities. Further studies are needed to determine if cardiovascular anomalies are more frequently seen in children with neuroblastoma.

Abdominal Neoplasms↗

PubMed1998

Maintenance of musculoskeletal function in people with haemophilia.

Bleeding affecting muscles and joints is the most common manifestation of haemophilia. In the long term, prevention of musculoskeletal abnormality in haemophilic patients is cost effective. Early diagnosis and proper treatment is fundamental to prevent disability. Prevention can be divided into secondary and tertiary levels. Secondary prevention concentrates on how to handle a haemophilic child, and on the education of the family so that they develop a safe and healthy lifestyle and awareness of the importance of early diagnosis and treatment. Tertiary prevention deals with minimizing the musculoskeletal consequences of muscle and joint bleeding. Coagulation factor replacement, appropriate care of the bleeding site and early physical therapy helps to prevent complications and yields the best results. Recurrent episodes of joint bleeding can lead to chronic synovitis. Initially synovitis demands conservative treatment. However, conservative methods are often not successful. Chronic synovitis is the most important cause of joint degeneration and the aim of rehabilitation is to achieve functional status using special casting techniques, orthoses or preventative surgery. Surgical, radioisotope or chemical synovectomy may be used. Technical requirements and availability of haemostatic cover limit the use of surgical and radioisotope synovectomy. The author has found chemical synovectomy with rifampicin to be an easier and more effective procedure than surgery. Problems related to joint deformities, muscle atrophy and chronicle pain demand comprehensive care. They are the main factors affecting the maintenance of musculoskeletal function and the social integration of people with haemophilia.

Adaptation, Physiological↗

PubMed1998

Oculocerebrorenal syndrome of Lowe: three mutations in the OCRL1 gene derived from three patients with different phenotypes.

The oculocerebrorenal syndrome of Lowe (OCRL) is an X-linked multisystem disorder with major abnormalities of eyes, nervous system, and kidneys. Clinical manifestations include congenital cataract, mental retardation, and renal tubular dysfunction. A gene (OCRL1) responsible for OCRL was identified by positional cloning and its product OCRL-1 protein was shown to be a phosphatidylinositol 4,5-bisphosphate [PtdIns(4,5)P2] 5-phosphatase localized to the Golgi apparatus. We describe three mutations in OCRL1, one in a patient with severe phenotype and two in patients with moderate phenotype (degree of mental retardation and musculoskeletal abnormalities). The patient with severe phenotype had a G-to-A transition at nucleotide (nt) 1,739, causing an Arg-to-Gln substitution at amino acid 577, and one patient with moderate phenotype had a C-to-G transversion at nt 1,812, leading to a His-to-Gln substitution at amino acid 601. Both Arg-577 and His-601 are encoded by exon 15 and are probably important for proper function of this protein, since these are conserved in various enzymes catalyzing dephosphorylation of inositol compounds. In the other patient with the moderate phenotype, there was a G-to-A transition at nt 2,797 located at the 3'-end of exon 22. This substitution led to a skip of the same exon as well as conversion of codon-930 from GCT (Ala) to ACT (Thr) in the normal-size transcript. When we measured the enzyme activity in skin fibroblasts from the three patients, the activity was less than 10%, compared to findings in normal controls. Western blot analysis showed absence or severe decrease in OCRL-1 protein in cell lysates derived from these patients.

Adolescent↗

PubMed2006

[Musculoskeletal examination: from neonates to adolescents].

A large number of medical consultations are related to musculoskeletal abnormalities. Less than 10 percent of patients are referred for surgery. In most cases, history taking and a mere clinical examination are sufficient to establish a diagnosis. Useful additional tests are usually limited to standard anteroposterior and lateral x-rays and laboratory analysis when an infection- or inflammation-induced abnormality is suspected. Any physician likely to deal with children should be able to conduct this clinical examination and include some of its elements given its essential role in screening (spinal deformities for instance).

Adolescent↗

PubMed1999

Musculoskeletal and neurologic outcomes in patients with previously treated Lyme disease.

BACKGROUND: Previous follow-up studies of patients with Lyme disease suggest that disseminated infection may be associated with long-term neurologic and musculoskeletal morbidity. OBJECTIVE: To determine clinical and functional outcomes in persons who were treated for Lyme disease in the late 1980s. DESIGN: Population-based, retrospective cohort study. SETTING: Nantucket Island, Massachusetts. PARTICIPANTS: 186 persons who had a history of Lyme disease (case-patients) and 167 persons who did not (controls). MEASUREMENTS: Standardized medical history, physical examination, functional status measure (Medical Outcomes Study 36-item Short Form Health Survey [SF-36]), mood state assessment (Profile of Mood States), neurocognitive tests, and serologic examination. RESULTS: The prevalence of Lyme disease among adults on Nantucket Island was estimated to be 14.3% (95% CI, 9.3% to 19.1%). In multivariate analyses, persons with previous Lyme disease (mean time from infection to study evaluation, 6.0 years) had more joint pain (odds ratio for having joint pain in any joint, 2.1 [CI, 1.2 to 3.5]; P = 0.007), more symptoms of memory impairment (odds ratio for having any memory problem, 1.9 [CI, 1.1 to 3.5]; P = 0.003), and poorer functional status due to pain (odds ratio for 1 point on the SF-36 scale, 1.02 [CI, 1.01 to 1.03]; P < 0.001) than persons without previous Lyme disease. However, on physical examination, case-patients and controls did not differ in musculoskeletal abnormalities, neurologic abnormalities, or neurocognitive performance. Persons with previous Lyme disease who had persistent symptoms after receiving treatment (n = 67) were more likely than those who had completely recovered to have had fever, headache, photosensitivity, or neck stiffness during their acute illness (87% compared with 13%; odds ratio, 2.4 [CI, 1.0 to 5.5]; P = 0.045); however, the performance of the two groups on neurocognitive tests did not significantly differ. CONCLUSIONS: Because persons with previous Lyme disease exhibited no sequelae on physical examination and neurocognitive tests a mean of 6.0 years after infection, musculoskeletal and neurocognitive outcomes seem to be favorable. However, long-term impairment of functional status can occur.

Adult↗

PubMed1996

[Radiographic manifestations in teeth and jaws in chronic kidney insufficiency].

Forty-five patients affected with chronic renal failure (29 men and 16 women; mean age: 47.8 years), treated with hemodialysis for 4 to 245 months (mean: 66.9 months) were examined with panoramic and skeletal radiographs-the latter of the skull, hands, shoulders and clavicles, pelvis and spine. The control group (45 subjects with no renal diseases) was examined only with panoramic radiography. Dental and skeletal radio-graphs were given an 0-6 score and then compared to assess a possible relationship between skeletal and dental changes at radiography. Twenty-six dialysis patients (57.7%) had radiographic abnormalities in the maxillary bones-i.e., osteoporosis (100% of patients), focal osteosclerosis adjacent to the roots (11.5%), lamina dura reduction or loss (26.9%), calcifications of soft tissues or salivary glands (15.3%) and brown tumors (7.6%). In the teeth of dialysis patients, the dental pulp chamber was narrowed in 11.1% and hypercementosis of the roots was observed in 4.5%. Radiographic abnormalities in the hand, shoulder and pelvis were depicted in 51.1% of dialysis patients-in 86.9% of them with maxillary lesions. In the control group, 15.5% had mandibular bone lesions-i.e., osteopenia, cortex reduction at the mandibular angles and cyst-like lesions -but the evidence of caries and periodontal disease did not differ from that in the dialysis group. The diagnosis and follow-up of dialysis patients are currently made with serum biochemistry, radiography and histology. The purpose of skeletal radiology is to monitor the progression or regression of musculoskeletal abnormalities. Panoramic radiography might be useful in monitoring renal osteodystrophy, especially to assess the response to therapy-i.e., parathyroidectomy, calcium or vitamin-D therapy and renal transplant.

Adult↗

PubMedDate not supplied

Unusual musculoskeletal manifestations of Lyme disease.

We report on the imaging features of musculoskeletal abnormalities in a 52-year-old woman suffering from Lyme disease presenting with acrodermatitis chronica atrophicans (ACA). The patient developed recurrent attacks of migratory asymmetrical oligoarthritis, involving articular and peri-articular structures, including the metatarsophalageal (MTP) joints, scapular bone, thoracic spine, elbow, gluteal area, knee, ankle and metacarpophalangeal (MCP) joints. Six months after the first symptoms, Magnetic Resonance Imaging (MRI) showed bone marrow oedema within the proximal phalanx of the right fifth toe, adjacent to an ACA rash. A year after the onset of the disease, swelling at the right scapular region occurred, and MRI showed osseous, periosteal and soft tissue involvement of the superior margin of the right scapula and adjacent rib. On MRI of the spine, there was bone marrow infiltration with irregular delineation of the anterior corner of the thoracic vertebrae 4 to 6, corresponding to an osteoblastic bony lesion on radiographic examination. This case report is unique, because MRI documentation of bony abnormalities and periarticular soft tissue swelling, accompanying an attack of ACA has never been reported previously. Moreover, involvement of the osseous spine and the scapular bone have never been described in the radiological literature.

Acrodermatitis↗

PubMedDate not supplied

Musculoskeletal sarcoidosis: spectrum of appearances at MR imaging.

Magnetic resonance (MR) imaging reveals a broad range of musculoskeletal abnormalities in patients with sarcoidosis, including focal and diffuse muscle lesions, soft-tissue masses, joint abnormalities, and marrow infiltration of small and large bones. Long bone and axial skeletal involvement may be occult at conventional radiography but depicted at MR imaging, with an appearance that resembles that of osseous metastases. Sarcoidosis-related findings may be detected at dedicated MR imaging for osteoarticular symptoms in sarcoidosis patients or encountered incidentally at MR imaging performed for other indications. Correlation with clinical and laboratory findings is essential for correct diagnosis because the MR imaging findings are nonspecific in most cases. The radiologist should be aware of potential sarcoidal causes in the differential diagnosis of musculoskeletal lesions in patients with proved or suspected sarcoidosis. Such consideration will have a profound effect on the interpretation of images and on the study of patients with dual diagnoses of sarcoidosis and neoplasm.

Adult↗

PubMed2004

The health of somatic cell cloned cattle and their offspring.

The cloning syndrome is a continuum with the consequences of abnormal reprogramming manifest throughout gestation, the neo-natal period, and into adulthood in the cloned generation, but it does not appear to be transmitted to subsequent offspring following sexual reproduction. Most in vivo studies on bovine somatic cell cloning have focused on development during pregnancy and the neo-natal period. In this paper, we report on the viability and health of cloned cattle in adulthood. From our studies at AgResearch, we find that between weaning and 4 years of age, the annual mortality rate in cattle cloned from somatic cells is at least 8%. Although the reasons for death are variable and some potentially preventable, the main mortality factor in this period is euthanasia due to musculoskeletal abnormalities. This includes animals with severely contracted flexor tendons and those displaying chronic lameness, particularly in milking cows. In contrast, no deaths beyond weaning have so far been encountered with the offspring of clones where the oldest animals are 3 years of age. In surviving cloned cattle, blood profiles and other indicators of general physiological function such as growth rate, reproduction, rearing of offspring, and milk production are all within the normal phenotypic ranges.

Animals↗

PubMed2005

Xq chromosome duplication in males: clinical, cytogenetic and array CGH characterization of a new case and review.

Males with duplications within the long arm of the X chromosome are rare and most cases are inherited from a maternal heterozygote. We report a male with a de novo Xq duplication and review of the literature. The proband was ascertained prenatally after an abnormal expanded alpha-fetoprotein (AFP) screen and abnormal ultrasound findings. Chromosome analysis on amniocyte and subsequent peripheral blood lymphocyte cultures showed a male karyotype containing additional material on the long arm of the X chromosome. Fluorescence in situ hybridization with an X chromosome whole chromosome paint probe showed that the additional material was derived from the X chromosome, interpreted as a dup(X)(q13.3q24). Further characterization of the duplication by array CGH showed a duplication size between 30-44 Mb as determined by the map position of the flanking clones on the array, and refined the breakpoints of the duplicated region to Xq21.32 --> Xq25. At birth, the proband had multiple craniofacial abnormalities, musculoskeletal anomalies, bilateral cryptorchidism with scrotal hypoplasia, conductive hearing loss, and profound generalized hypotonia despite normal birthweight, length, and head circumference. Although data regarding Xq duplications in males are limited, a clear pattern of characteristic features can be discerned as illustrated in the present case and confirmed in our literature review. Mental, psychomotor and growth retardation, as well as, craniofacial anomalies, muscle hypotonia, hypoplastic genitalia, cryptorchidism, feeding difficulties, and endocrine dysfunction are all significant issues in these individuals.

Abnormalities, Multiple↗