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PubMed2002

A variant microcephalic osteodysplastic slender-bone disorder with growth hormone deficiency and a pigmentary retinopathy.

We present the case of a 3-year-old boy with post-natal growth failure, microcephaly, developmental delay, facial dysmorphism, an evolving pigmentary retinopathy, pituitary hypoplasia, micropenis, and growth hormone (GH) deficiency. He has a microcephalic osteodysplastic slender-bone disorder with disharmonic delayed osseous maturation, most closely resembling patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II). Intrauterine growth retardation, a universal finding in the MOPD II, was absent in our patient.

Abnormalities, Multiple↗

PubMed2004

A trisomy 2 fetus with severe neural tube defects and other abnormalities.

Examination of an abortus from a 13 week miscarriage revealed a fetus of around 9 weeks developmental age with multiple abnormalities including microcephaly, iniencephaly and encephalocele continuous with cervical and thoracic spina bifida, whose karyotype was subsequently shown to be 47,XY, + 2.

Abnormalities, Multiple↗

PubMed2004

Seckel syndrome associated with atrioventricular canal defect: a case report.

Seckel syndrome is a rare autosomal recessive disorder and its characteristic features are marked growth and mental retardation, significant microcephaly and a convex nose. We report a boy with this syndrome who also had severe cardiac anomalies. Although his parents were non-consanguineous, it is suggested that he had autosomal recessive inheritance.

Abnormalities, Multiple↗

PubMedDate not supplied

Auxological evaluation in patients with DiGeorge/velocardiofacial syndrome (deletion 22q11.2 syndrome).

PURPOSE: Patients with microdeletion of chromosome 22q11.2 (del22q11) were studied, in order to evaluate auxological parameters and to correlate growth patterns with the presence of main clinical characteristics of the syndrome. METHODS: Between January 1995 and March 2000, auxological parameters (weight, height, head circumference, and bone age) of 73 patients with del22q11 were collected. Five subgroups of patients were distinguished: Group I (37 patients) included patients aged between 0.3 and 4 years, Group II (20 patients) included patients aged between 5 and 10 years, Group III (16 patients) included patients aged between 11 and 16.3 years. The presence or absence of some clinical features was correlated to growth patterns. RESULTS: Weight: in Group I, 5 of 37 (13.5%) patients were below the 3rd percentile, 29 of 37 (78.3%) were below the mean percentile, none was overweight; in Group II, 13 of 20 (65%) patients were between the 10th and the 50th percentiles; in Group III, weight corresponded to the 97th percentile in 5 of 16 (31.2%) patients, and in 2/16 (12.5%) adolescents, the weight measurements were even above the 97th percentile. Height: short stature was detected in 7 of 73 (9.6%) of the total patients; the patients with short stature were all < 10 years old; the height was within the normal age in all adolescent patients. Head circumference: it was below the 3rd percentile in 7 of 73 (9.6%), between the 3rd and the 25th percentiles in 36 of 73 (49.3%) patients, between the 25th and the 75th percentiles in 20 of 73 (27.3%) patients, and between the 75th and the 97th percentiles in 10 of 73 (13.7%) patients. Bone age: mean +/- SD bone age was -0.25 +/- 0.78 years. Comparisons: the only statistically significant correlation was that between the presence of feeding difficulties and underweight. CONCLUSION: Auxological parameters of children with del22q11 are characterized by: (1) weight deficiency in the first years of age, (2) weight normalization in the following years, (3) development of obesity in adolescence, (4) short stature in 10% of the patients, (5) normal height in adolescents, (6) slight delay in bone age in infancy, (7) microcephaly in 10% of the patients.

Adolescent↗

PubMed2001

Cerebro-oculo-facio-skeletal syndrome as a human example for accelerated cochlear nerve degeneration.

BACKGROUND: Cerebro-oculo-facio-skeletal (COFS) syndrome is a rare autosomal-recessive disorder that includes microcephaly, severe mental retardation, and multiple congenital anomalies. Otologic findings are usually limited to descriptions of the auricles. PATIENT AND METHODS: The authors report inner ear histopathologic findings of a deceased 13-year-old patient with COFS. A histologic study of the inner ear in COFS syndrome has not yet been described. This patient was documented as having a profound bilateral sensorineural hearing loss at the age of 2 years. RESULTS: Histologic evaluation revealed accelerated neural and neuronal degeneration at the cochlear and retrocochlear levels. Remaining myelinated nerve fibers, counted in the spiral lamina, had degenerated by up to 97% when compared with normal innervation densities. Afferent nerve fibers innervating inner hair cells were completely absent, whereas medial efferent fibers to outer hair cells were found. Vestibular nerve fibers were less affected. CONCLUSION: The authors report inner ear findings that differ from animal models of primary cochlear neural degeneration and that resemble the pattern of hereditary cochlear nerve degeneration reported in Friedreich's ataxia.

Abnormalities, Multiple↗

PubMed2004

Mosaic monosomy 14: clinical features and recognizable facies.

A 1-year-old child with clinical features of monosomy 14 is reported. She has dysmorphic facial features including ocular colobomata, dolichocephaly and microcephaly, retinal pigmentation, severe seizures, fair curly hair and tapering fingers. There was severe mental retardation. This is the first reported case of severe mosaic monosomy 14, with up to 30% mosaicism. A recognizable facial gestalt is present in children with 14q deletions or partial monosomy 14, as well as susceptibility to infection, feeding difficulties, seizures and retinal pigmentation.

Brain↗

PubMed2004

Trisomy 16 in a mid-trimester IVF foetus with multiple abnormalities.

An 18 week foetus with multiple system abnormalities was found to have full trisomy 16. This appears to be only the third reported case surviving into mid-gestation; typically, this common aneuploidy dies post-implantation. Similarities exist in the abnormalities found in the three cases suggesting that there is a 'surviving' trisomy 16 phenotype. It is characterised by: absent hemidiaphragm, pulmonary hypoplasia/aplasia, major cardiac defect, small chest, vertebral and rib defects, cystic kidneys, absent gall bladder, multiple spleens and imperforate anus, together with cleft palate, nuchal webbing/cystic hygroma, microcephaly, marked dysmorphic facial features and dorsiflexed great toe.

Abnormalities, Multiple↗

PubMed2006

Neuhauser syndrome and Peters' anomaly.

We report a 9-month-old boy with major features of Neuhauser syndrome, including megalocornea, mental motor retardation, hypotonia, dysmorphic findings (high-arched palate, broad nasal bridge, epicanthus), who also had additional findings such as Peters' anomaly, microcephaly, undescended testicle, patent ductus arteriosus and atrial septal defects. Ophthalmologic examination demonstrated central opacity of the left cornea and lens and iris adhesions extending from the pupillary margin to the borders of the opacity. Keratoplasty operation was done for the right eye owing to central corneal opacity. Neuhauser syndrome should be considered in the differential diagnosis of the patients with megalocornea, hypotonia and mental and motor retardation who have dysmorphic findings. To the best of our knowledge, Peters' anomaly has not been reported in Neuhauser syndrome previously.

Abnormalities, Multiple↗

PubMed1998

A Japanese case of Neu-Laxova syndrome.

A 5-day-old Japanese female with Neu-Laxova syndrome was presented. The patient had severe edema throughout the body, desquamation, and erosion of the skin. She also exhibited microcephaly, exophthalmos, and rocker-bottom feet. Histologic examinations of a cutaneous specimen showed atrophy of the dermis and absence of the sebaceous glands. These represent embryonic abnormalities. Even though there was no hypoplasia of the cerebellum and lungs or hydramnios, we evaluated this patient as the first Japanese case of this sporadic disease. With intensive care, including dermatological treatment, the patient survived for 134 days.

Abnormalities, Multiple↗

PubMed1978

Trisomy 18 in an 11 year old girl.

A case of trisomy 18, confirmed by G banded chromosome analysis, is reported in an eleven year old Australian girl. There is no cytogenetic evidence of mosaicism in the propositus or her parents. The patient's salient clinical features are severe mental and motor retardation with microcephaly, kyphoscoliosis and various congenital anomalies. She has very mild congenital heart disease. She has been totally institutionalised and has required constant medical care. Comparison of her condition with other long-term survivors with trisomy 18 reported in the literature, and also considered to be non-mosaic, reveals many similar features. However, no pattern emerges as to why these rare patients have survived.

Child↗

PubMed1975

Adducted thumb syndromes.

The adducted thumbs syndrome is characterized by cleft palate, microcephaly, and dysmyelination. A fifth case of this syndrome is presented. Several other syndromes which may present with adducted thumbs are reviewed and re-assessed. The original contributions consist of discussions of (1) the possible pathogenesis of adducted thumbs in the congenital clasped thumb syndrome, and (3) the significance of adducted thumbs as a possible marker in sex-linked hydrocephalus.

Abnormalities, Multiple↗

PubMed1977

An autosomal dominant midline cleft syndrome resembling familial holoprosencephaly.

We have detected a previously unrecognized autosomal dominant syndrome characterized by: mental retardation, microcephaly; craniofacial anomalies including cleft lip and anterior cleft palate, hypotelorism and antimongoloid slant; skeletal anomalies, notably of the foot and spine; and chronic constipation. Despite similarities to familial holoprosencephaly, this disorder appears to be a distinct entity. Incomplete penetrance and variable expressivity accompany transmission of the abnormal allele through four generations of a large kindred. Three of the four affected males survived past 20 years of age; the fourth is an infant. All three affected females died very early in infancy.

Abnormalities, Multiple↗

PubMed1977

Trisomy 4p: five new observations and overview.

Five new cases of trisomy of the short arm of chromosome No. 4 are presented. In two brothers the abnormality arose from segregation of the 4p chromosome present in the mother who is a carrier of a centric fission of one No. 4 chromosome. In the other three patients, the chromosome imbalance originated from segregation of a balanced maternal 3p/4q or 4/22 translocation. The available data, derived from the 4p trisomics reported so far, are adequate to establish trisomy of the short arm of chromosome No. 4 as a definite clinical entity. The most outstanding findings include growth retardation of prenatal onset, severe mental deficiency, microcephaly and a peculiar constellation of facial dysmorphisms. The dermatoglyphic patterns and the radiological findings may help towards a correct interpretation of the syndrome.

Abnormalities, Multiple↗

PubMed1985

Oculo-palato-cerebral dwarfism: a new syndrome.

Three of four offspring of consanguineous parents presented a unique association of microcephaly, mental retardation, spasticity, connective tissue abnormalities, cleft palate, persistent hypertrophic primary vitreous, and short stature. In one patient brain atrophy was documented. All the affected individuals had severe asthma and it is thought that the asthma is associated with the syndrome complex. Genetic transmission is most likely autosomal recessive. We believe this constellation of findings to be a new genetic syndrome and have termed it the oculo-palato-cerebral dwarfism syndrome.

Abnormalities, Multiple↗

PubMed1986

A new chromosome instability disorder.

Chromosome analysis in a 31-year-old woman referred for primary amenorrhea, revealed a very high incidence of chromosome aberrations. She had microcephaly and immunodeficiency. Her healthy parents were consanguineous (1/32) and a younger sister, also with primary amenorrhea, died when 20 years old with a malignant lymphoma. Chromosome studies were performed on lymphocytes and fibroblasts and in both tissues a high proportion of metaphases with multiple chromosome aberrations was found. Clonal and sporadic rearrangements, consisting of balanced and unbalanced translocations and dicentric chromosomes were more numerous than chromatid and chromosome breaks. In the lymphocytes the same unbalanced translocation t(8q;21q) was present in about 59% of the metaphases. Rearrangements involving chromosomes 7 and 14, similar to those described in patients with ataxia-telangiectasia were found, but with a lower frequency. Sister Chromatid Exchanges were not increased. Chromosome and chromatid abnormalities were enhanced after exposure of cells to mitomycin C but not after exposure to the radiomimetic drug bleomycin. Clinical and cytogenetic characteristics of the patient are compared with those of syndromes (Ataxia-Telangiectasia and Werner's syndrome) or isolated cases (Weemaes et al. 1981, Sperling 1983, Spinner et al. 1985) whose features are similar to those of our patient. This case might represent a new chromosome instability syndrome due to a recessive mutation.

Adult↗

PubMed1987

Free proximal trisomy 21 without the Down syndrome.

Analysis of partial duplication of chromosome 21 suggests that band 21q22 contains determinants for the Down syndrome. We report two cases of free proximal trisomy 21 without manifestations of the Down syndrome. Phenotypic anomalies included marked microcephaly, short stature, hypoplastic nails, and mental retardation/developmental delay. Our cases are consistent with the assignment of band 21q22 as the causal duplicated segment in the Down syndrome.

Adult↗

PubMed1987

Microcephalic osteodysplastic dwarfism (type II-like) in siblings.

We report about two sibs showing a common pattern of birth defects, with a pedigree suggestive of autosomal recessive heredity. The main features are intrauterine growth failure with very low birthweight; disproportionate dwarfism with predominantly distal shortening of limbs; small cubitally inclined clenched hands; microcephaly with Seckel-like facies and delayed psychomotor development. X-ray findings include metaphyseal flare, V-shaped femoral metaphyses and bowing of forearms. Primordial microcephalic osteodysplastic dwarfism Type II is discussed. Metabolic and nutritional data are presented and discussed.

Diseases in Twins↗

PubMed1989

Two rare cases of 6p partial deletion.

Two rare cases of 6p partial deletion (6p23----pter) are described. Both patients are at or past the adolescent stage, with severe mental retardation and severe to moderate developmental retardation. Physical dysmorphic features that stand out are: short forehead, borderline microcephaly, low-set malformed ears, hyperplastic nares, dental anomalies and short terminal phalanges. The diversity of the phenotypic features has considerable variations in patients with ring of 6, apparently reflecting the relative loss of p and q arms. A case of a larger terminal deletion and a report of an interstitial deletion is also reviewed.

Adult↗