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PubMed2004

The anesthetic management of a patient with Cohen syndrome.

Cohen syndrome is a rare genetic disorder caused by autosomal recessive inheritance and is characterized by the following features: mental retardation, infantile hypotonia, micrognathia, narrow and high-arched palate, microcephaly, prominent upper central incisors, poor dentition, short stature, and truncal obesity. Some patients have strabismus, myopia, optic atrophy, and total blindness. A small number of cases present with heart defects or mitral valve prolapse. Only approximately 100 cases have been reported in the world literature. The administration of general anesthesia in patients with Cohen syndrome can be a challenge because most of these patients are mentally retarded and uncooperative and have facial malformations that may make intubation difficult. We present our experience with the anesthetic management of a patient with Cohen syndrome.

Abnormalities, Multiple↗
PubMed2000

Positional cloning and functional analysis of the gene responsible for Nijmegen breakage syndrome, NBS1.

Nijmegen breakage syndrome (NBS) is a rare autosomal recessive disorder characterized by microcephaly, combined immunodeficiency, and a high incidence of lymphoid tumor. Cells from NBS patients show chromosomal instability, hypersensitivity to ionizing radiation and abnormal p53-mediated cell cycle regulation. We cloned the underlying gene for NBS, designated NBS1, by complementation-assisted positional cloning from the candidate region 8q21. Large genomic sequencing, as well as a search using computer programs, provides a powerful approach for identifying the underlying gene for a disease. The NBS1 gene encodes a protein of 754 amino acids that has FHA and BRCT domains which often are conserved in cell-cycle checkpoint proteins. The gene has weak homology to the yeast (Saccharomyces cerevisiae) Xrs2 protein in the N-terminus region. Like yeast Xrs2, the NBS1 protein forms a complex with hRAD50/hMRE11, and the complex is condensed as foci in the nucleus after irradiation, indicative that this triple-complex is a crucial factor in DNA repair. Functional analysis of the NBS1 protein is in progress and it should provide further clues to understanding the repair mechanism of radiation-induced DNA double-strand breaks.

Amino Acid Sequence↗
PubMed2006

Two years of growth hormone treatment in the first growth hormone deficient patient with cerebrofaciothoracic dysplasia.

We recently reported two siblings, a sister and a brother, with intrauterine growth retardation, microcephaly, short stature, mental retardation, facial dysmorphism and multiple costovertebral malformations. These features fit most with the diagnosis of cerebrofaciothoracic dysplasia, or Pascual-Castroviejo syndrome. The second sibling, our index patient, presented also with cleft palate and growth hormone (GH) deficiency, suggesting that endocrinological assessment should be performed in short patients with this syndrome, especially if midline defects are present. We present the results of 2 years GH treatment of this first GH deficient patient with cerebrofaciothoracic syndrome and compare the results to those observed in other genetic syndromes with GH deficiency.

Body Weight↗
PubMed1986

[Börjeson-Forssman-Lehmann syndrome: report of a case].

We present a case of Börjeson-Forssman-Lehmann syndrome characterized by the presence of hypogonadism, grotesque facies, microcephaly, large ears, obesity and convulsions. In addition to these findings, which were detected also in the other patients described in the literature, the present patient showed hyperglycemia and aminoaciduria. In our opinion, the presence of these alterations and the poor evolution of the patient, with death occurring during the first year of life, may contribute to the amplification of the phenotypic spectrum of the Börjeson-Forssman-Lehmann syndrome.

Ear↗
PubMed1988

[Cerebellar agenesia associated with microencephaly and agyria: report of an autopsied case in a newborn infant and a review of the literature].

A post-mortem examined case of cerebellar agenesis associated with microcephaly, agyria and deformities of the extremities and of the external ear in a newborn is presented. Such an association has not yet been reported in the literature. This is the seventh case of cerebellar agenesis ever registered in the literature. This case is compared with other previously published cases and the possible etiological factors involved as well as the period during which the cerebral malformations appeared in the present case are commented upon.

Brain↗
PubMed2004

A case of cleft lip and palate associated with Seckel syndrome.

OBJECTIVE: We report an unusual association of complete cleft of the primary and secondary palate with Seckel syndrome. Seckel syndrome is a very rare syndrome, with only 60 reported cases in the medical literature. It is an autosomal recessive disorder characterized by birdlike face, intrauterine growth retardation, dwarfism, and microcephaly. This young child of 5 years had a successful cleft lip repair under general anesthesia. The main features of the syndrome and the technical problems of anesthesia and surgery are discussed.

Anesthesia, General↗
PubMed2006

Structural birth defects associated with oral clefts in Hawaii, 1986 to 2001.

OBJECTIVE: To identify structural birth defects that occur in association with oral clefts. METHODS: Data were obtained from a birth defects registry and included all infants and fetuses with cleft palate without cleft lip or cleft lip with or without cleft palate delivered from 1986 to 2001. For 47 specific structural birth defects, rates among oral cleft cases were compared with the rates among all infants and fetuses with major birth defects, excluding those with oral clefts. RESULTS: Among cleft palate only cases, the rates were significantly higher than expected for encephalocele, microcephaly, and syndactyly. Among cases of cleft lip with or without cleft palate, the rates were significantly higher than expected for anophthalmia/microphthalmia, single ventricle, reduction deformity of upper limbs, and reduction deformity of lower limbs. When cases of cleft palate only and cleft lip with or without cleft palate were compared as to the rates for particular birth defects, the rates of the defects were either higher or lower than expected in both oral cleft categories for 38 (81%) of the defects. CONCLUSIONS: Certain birth defects were more frequently associated with oral clefts than might be expected. For the majority of defects, their patterns of association were similar between cleft palate without cleft lip and cleft lip with or without cleft palate.

Anophthalmos↗
PubMed1998

Effects of irradiation and methyl-triazene on craniofacial development in mouse embryos: a semiautomated morphometric analysis.

OBJECTIVE: The purpose of the present study was a 2D-semiautomated morphometric analysis of craniofacial growth in nuclear magnetic resonance imaged (NMRI) mouse embryos. METHODS: The NMRI mouse embryos were exposed in utero to either a single dose of 2 Gy X-irradiation on day 9 of gestation (113 embryos) or to 1.5 mg methyl-triazene administered orally to their pregnant mothers on gestational day 10.5 (124 embryos). An additional group of 108 embryos was used as controls. Digitized pictures of embryos from gestational days 14 to 17 were taken in lateral right view using a video system. Landmarks were located and digitized for computerized analysis of growth changes in relation to developmental stages of the face. RESULTS: The results revealed that the snout of control embryos lengthens during the developmental period considered. The snout of embryos previously submitted to methyl-triazene displayed micrognathia, and all treated fetuses exhibited macroscopic signs of microcephaly with a reduced mandible. The snouts of irradiated embryos appeared shortened at the 14-day stage and continued to shorten as development proceeded. A shortening of the midface was detected macroscopically in 83% of the cases. CONCLUSION: The results of this morphometric analysis enabled us to trace the developmental progression of the induced dysmorphosis and to assess the differences compared with normal development.

Abnormalities, Drug-Induced↗
PubMed2001

Craniofacial morphology, dentition, and skeletal maturity in four siblings with Seckel syndrome.

OBJECTIVE: To describe the craniofacial morphology, dentition, and hand maturity in four siblings with Seckel syndrome. PATIENTS: Two boys and two girls, with Seckel syndrome. The children studied showed extreme growth retardation, severe microcephaly, bird-headed profile with receding chin, prominent nose, mental retardation, and extremely delayed skeletal maturation. The growth hormone axis and pituitary thyroid function was normal. METHODS: Skeletal and dental development were investigated from radiographic material, and a cephalometric analysis was performed from profile radiographs. RESULTS: The craniums were remarkably small with an extremely short anterior cranial base (-4.3 to -5.5 standard units) and maxillary length (-3.8 to -4.7 SU). Differences in the morphology of the sella turcica were observed in girls and boys. Tooth maturity progressed normally. Tooth agenesis and tooth malformations were observed. Taurodontic root morphology was observed only in the girls. The approximate skeletal maturity showed retardation from 4 years 3 months to 4 years 11 months. Malformations of the hand-wrist skeleton occurred in the epiphyseal ossification centers of the middle phalangeal bone in the second, third, and fourth finger and in the distal phalangeal bone in the fifth finger. The epiphyseal ossification centers were lacking in the middle and distal phalangeal bones of the fifth finger. CONCLUSION: The underlying gene defect in the affected children seemingly affects bone development and growth but not dental maturation and eruption.

Adolescent↗
PubMed2002

Seckel syndrome: report of a case.

An interesting case of a seven years old boy with a combination of clinical, genetic, radiological, pathologic and dental findings is presented in view of Seckel syndrome literature. General appearance of the patient was characterized by small forehead, posteriorly slanted ears, slightly beaked nose, midfacial hypoplasia very stunted stature with microcephaly. He had borderline mental retardation with normal motor development. Class II dentoskeletal pattern with mild overjet and open bite, congenitally missing permanent teeth, microdontia, enamel hypoplasia, taurodontism and dentinal dysplasia was observed according to the clinical and radiographic examination. In conclusion, Seckel syndrome is not encountered routinely in dental clinics, this case illustrates the importance of dental care in such a rare condition.

Anodontia↗
PubMed1986

Maternal phenylketonuria-chronology of the detrimental effects on embryogenesis and fetal development: pathological report, survey, clinical application.

Maternal phenylketonuria (PKU) is likely to have detrimental effects on embryogenesis and fetal development. Manifestations in the offspring include spontaneous abortion, various congenital malformations, intrauterine growth retardation, and microcephaly. The time at which the metabolic abnormalities induce pathologic embryogenesis can be documented by knowing the time of the development of specifically damaged organ systems. This review reveals that, while the most recognized congenital malformations occur in the heart, the most common abnormality is growth inhibition occurring throughout pregnancy. The organ system most commonly affected by this growth inhibition is the brain, resulting in a high incidence of micrencephaly. It appears that maternal phenylketonuria interferes with appropriate fetal growth and that this effect occurs during the entire course of pregnancy and has no tissue specificity. This information can be both informative to pathologists and useful to clinicians.

Embryonic and Fetal Development↗
PubMedDate not supplied

Postmortem findings in the Nijmegen breakage syndrome.

Autopsy findings for two patients with the Nijmegen breakage syndrome (NBS) are presented. This syndrome has the same type of immunologic and cytogenetic abnormalities as ataxia telangiectasia (AT). In NBS, however, microcephaly is found and progressive cerebellar ataxia and oculocutaneous telangiectasia are lacking. We demonstrate a clear neuropathologic difference between these two syndromes, as the diffuse cortical cerebellar degeneration characteristic of AT was absent in NBS. In the thymus the histologic picture was suggestive of simple dysplasia. Lymphoid tissues were slightly atrophic but otherwise structurally normal. In one of the two presented cases an extranodal diffuse large cell malignant non-Hodgkin lymphoma of B cell immunoblastic type was found in Waldeyer's ring, in the small and large intestines, and in the brain, whose sequelae had caused death. Six of the 19 patients known with certainty to have this syndrome have developed lymphoid malignancy, which indicates that these patients are prone to develop malignancies.

Abnormalities, Multiple↗
PubMed2003

Rapid development of Chiari I malformation in an infant with Seckel syndrome and craniosynostosis. Case report and review of the literature.

To illustrate the rapidity with which a child can develop a severe, symptomatic Chiari I malformation, the authors present the case of a 3-month-old infant with Seckel syndrome (microcephaly, micrognathia, craniosynostosis, and multiple other abnormalities) and posterior sagittal and bilateral lambdoid synostosis. The infant underwent magnetic resonance (MR) imaging shortly after birth; the initial image demonstrated the cerebellar tonsils in the posterior fossa, with no herniation. He subsequently developed severe apneic episodes and bradycardia; repeated MR imaging at 3 months demonstrated severe tonsillar herniation with compression of the brainstem. The child underwent posterior fossa remodeling surgery, including release of the posterior sagittal and lambdoid sutures and decompression of the Chiari I malformation. The patient's apnea gradually improved; however, he died of complications of pneumonia and sepsis several weeks later. The authors identified from the literature 21 patients in whom there was a documented MR image or other neuroimage that did not reveal evidence of a Chiari I malformation, followed by a subsequent study with clear documentation of the presence of Chiari I malformation. The interval between the initial study and the development of the tonsillar herniation ranged from 11 days to 18.5 years. In most cases, a lumbar cerebrospinal fluid (CSF) diversion had been performed. This patient developed a severely symptomatic Chiari I malformation during a 3-month period. These reports illustrate that the Chiari I malformation can develop rapidly in the face of increased intracranial pressure, craniosynostosis, and spinal CSF diversion.

Abnormalities, Multiple↗
PubMed1984

The femur length/head circumference relation in obstetric sonography.

The relationship of sonographic femur length to biparietal diameter (BPD) in utero may be useful in detecting short-limb dwarfism, hydrocephaly, microcephaly, and measurement errors. Because BPD can be adversely affected by head shape changes (e.g., dolichocephaly), falsely high or low values of femur length/BPD could result. Because head circumference is less affected by head shape changes than is BPD, it should be a better standard of head size against which to judge limb length. The authors report normal values for the relationship between femur length and head circumference, based on a cross-sectional analysis of 361 normal fetuses (15-42 weeks) using real-time ultrasound.

Cephalometry↗
PubMed1999

Ataxia, ocular telangiectasia, chromosome instability, and Langerhans cell histiocytosis in a patient with an unknown breakage syndrome.

An 8 year old boy who had Langerhans cell histiocytosis when he was 15 months old showed psychomotor regression from the age of 2 years. Microcephaly, severe growth deficiency, and ocular telangiectasia were also evident. Magnetic nuclear resonance imaging showed cerebellar atrophy. Alphafetoprotein was increased. Chromosome instability after x irradiation and rearrangements involving chromosome 7 were found. Molecular study failed to show mutations involving the ataxia-telangiectasia gene. This patient has a clinical picture which is difficult to relate to a known breakage syndrome. Also, the relationship between the clinical phenotype and histiocytosis is unclear.

Ataxia↗
PubMed1979

[Fetal hydantoin syndrome in siblings].

The two children of an epileptic woman who underwent therapy with hydantoin during both pregnancies showed the characteristic findings of the fetal hydantoin syndrome: growth retardation, microcephaly, mental retardation, and a distinct hysmorphic pattern. Both exhibited a ridged metopic suture, hypertelorism, a short nose with a broad base, hypoplasia of the distal phalanges and nails of the toes, and inguinal hernias. In addition the 18-month-old girl exhibited epicanthal folds, strabismus, ptosis, and a small ventricular septal defect; she had been exposed in utero to 300 mg mesantoin daily. Her 6 1/2-year-old brother was more severely retarded, lacking speech and presenting with infantile autism. During pregnancy the mother had taken 400 mg mesantoin daily. About half of the offspring of epileptic women treated with hydantoin during pregnancy are mentally retarded, and 11% exhibit in addition the pattern of dysmorphic findings known as the fetal hydantoin syndrome. Hydantoin should therefore be strictly avoided in epileptic women of child-bearing age unless safe contraceptive measures are taken. In the event of pregnancy, therapeutic abortion should be considered if hydantoin therapy must be maintained.

Abnormalities, Multiple↗
PubMed1999

Partial duplication of 4q12q13 leads to a mild phenotype.

We report on the second case of duplication (4)(q12q13) with microcephaly, mental retardation, and minor facial anomalies. Duplications involving the distal region of chromosome 4q are well described and share common clinical findings. However, phenotypic abnormalities of duplications of the proximal portion of chromosome 4q are relatively unknown. A comparison of the clinical manifestations of our patient and the single published case suggests that the phenotype of this proximal 4q duplication is relatively mild. This study emphasizes the need to perform chromosome analysis in similar mildly affected/nonspecific cases.

Adult↗