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PubMed1988

Cerebral abnormalities in the Neu-Laxova syndrome.

Cerebral abnormalities are considered an obligatory manifestation of the Neu-Laxova syndrome and include lissencephaly, severe microcephaly, aplasia of the corpus callosum, hypoplasia of the cerebellum, and other pathological changes. We present data on 3 cases with central nervous system anomalies, two of which have not been described previously, and summarize the literature on the subject. The problem of distinguishing type III lissencephaly is discussed.

Abnormalities, Multiple↗
PubMed1989

Infantile hemangioendothelioma of the liver in patient with interstitial deletion of chromosome 6q: report of an autopsy case.

Here we report an infantile hemangioendothelioma of the liver that developed in a 6 month-old boy with an interstitial deletion of chromosome 6q. His clinical manifestations included developmental delay, feeding problems, and multiple anomalies including microcephaly, hypertelorism, apparently low set abnormal ears, prominent nasal bridge, cubitus valgus, overwrapping of fingers, cryptorchidism, and micropenis. He died abruptly at age 27 weeks from a perforating duodenal ulcer. Autopsy demonstrated atrial septal defect, microencephaly, and thymic atrophy. A solitary small tumor was found in the liver and diagnosed histologically as the infantile hemangioendothelioma, type 1. This is the first report of a del(6)q with infantile hemangioendothelioma.

Abnormalities, Multiple↗
PubMed1990

Dubowitz syndrome: possible evidence for a clinical subtype.

Clinico-genetic analysis of 21 personal observations and review of the literature confirmed the existence of a wide phenotypic spectrum of Dubowitz syndrome. It is shown that in spite of marked microcephaly, severe mental deficiency is rare in Dubowitz syndrome and about half of the patients are mentally normal. A "new" clinical subtype is defined, which also includes anorectal anomalies and premature craniosynostosis. All three families with this form are natives of a small area of Byelorussia, suggesting an autosomal or X-linked recessive mode of inheritance of this subtype. The data obtained confirm autosomal recessive inheritance of Dubowitz syndrome.

Abnormalities, Multiple↗
PubMed1990

Apparently nonmosaic trisomy 22: clinical report and review.

We report on apparently nonmosaic trisomy 22 in a liveborn girl with multiple congenital anomalies. The abnormalities were growth retardation; microcephaly; hypertelorism; epicanthic folds; anti-mongoloid slant; apparently low-set, malformed ears; highly arched, cleft palate; short webbed neck; and hypoplastic nails. The extra 22 was found to be of maternal origin by chromosome polymorphism.

Abnormalities, Multiple↗
PubMed1990

Trisomy 22 in a liveborn infant with multiple congenital anomalies.

We report on the third confirmed case of trisomy 22 in a liveborn infant. High-resolution banding studies ruled out translocations such as the relatively common t(11;22). The infant shared many manifestations with other reported cases of trisomy 22 (e.g., growth deficiency, microcephaly, micrognathia, ear malformations, cleft palate, and congenital heart defect) and some manifestations in common with dup 22. Trisomy 22 appears to cause a severe malformation syndrome, and survival to term is rare.

Abnormalities, Multiple↗
PubMed1990

A new syndrome of dwarfism, brachydactyly, nail dysplasia, and mental retardation in sibs.

We describe a new multiple congenital anomaly/mental retardation (MCA/MR) syndrome in chromosomally normal sibs. Both had microcephaly, a "coarse" face with synophrys, ear anomalies, type B brachydactyly, nail dysplasia, skeletal anomalies, dwarfism, and mental retardation. Their mother had nail dysplasia, mild mental retardation, and short stature. An uncle, a younger brother of the mother, died at 17 years of age and also had a "coarse" face, digital anomalies, dwarfism, and severe mental retardation. The malformation complex in this family apparently has not been described previously, and the manifestations of the patients do not correspond to those of any known malformation syndrome. The disorder may be attributable to the pleiotropic effect of an autosomal dominant or an X-linked semidominant gene.

Abnormalities, Multiple↗
PubMed1990

Partial trisomy 18 with minimal anomalies: lack of correspondence between phenotypic manifestations and triplicated loci along chromosome 18.

A 2-year-old boy with microcephaly, developmental delay, and minimal anomalies was found to have an extra submetacentric chromosome equivalent to 18pter----q12. Review of the phenotypes produced by various triplicated 18 regions supports the hypothesis that no one chromosome 18 region is sufficient to produce the phenotype of trisomy 18. The mild phenotype of trisomy 18p, the variable phenotype of trisomy 18pter----q12, and the discontinuous phenotype of triplication for band 18q12 alone emphasizes that the contribution of triplicated loci to the phenotype is neither additive nor invariant.

Child, Preschool↗
PubMed1991

Partial deletion of chromosome 6p: delineation of the syndrome.

Here we summarize the clinical findings of five new patients and nine patients reported in the literature with deletions of the short arm of chromosome 6. The del(6p) syndrome appears to include the following clinical findings: mental retardation, microcephaly, abnormal sutures, broad nasal bridge, various eye and ear abnormalities, a short neck with excess skin folds, and a normal birth weight and length.

Abnormalities, Multiple↗
PubMed1991

Neu Laxova syndrome in two Egyptian families.

We report on 2 Egyptian girls from 2 families with 8 affected relatives, 4 in each family. The 2 propositae had unusual facial appearance, severe microcephaly, generalized edema, contractures of limbs, and generalized ichthyotic skin lesions. Findings in the present 2 patients were compared with those in previously reported cases of Neu Laxova syndrome. In our cases, consanguinity, affected sibs, and affected cousins were noted. Autosomal recessive inheritance and lethality are emphasized. A high frequency of the Neu Laxova syndrome in Egyptians is suspected as a result of the increased consanguinity rate.

Abnormalities, Multiple↗
PubMed1991

Diagnosis of tetrasomy 18p using in situ hybridization of a DNA probe to metaphase chromosomes.

We identified an isochromosome of 18p [47,XY, +i(18p)] conclusively by in situ hybridization of an 18p-specific probe (B74; D18S3) to metaphase chromosomes of an affected patient. Clinical findings included mental retardation, microcephaly, and an atrial septal defect. Although there is similarity to patients previously described with tetrasomy 18p, it is impossible to rule out a low frequency of misdiagnoses in karyotypes determined solely by standard cytogenetic analyses. We expect the ability to conclusively identify an i(18p) to lead to the delineation of tetrasomy 18p as a distinct clinical syndrome.

Abnormalities, Multiple↗
PubMed1992

Rambam-Hasharon syndrome of psychomotor retardation, short stature, defective neutrophil motility, and Bombay phenotype.

We describe 2 Arab patients, both offspring of unrelated consanguineous matings, with unusual facial appearance, severe mental retardation, microcephaly, cortical atrophy, seizures, hypotonia, dwarfism, and recurrent infections with neutrophilia. Neutrophil motility was markedly decreased but the opsonophagocytic activity was normal. Both patients lack the red blood cell (RBC) H antigen and manifest the Bombay (hh) phenotype. Familial endocardial fibroelastosis and familial tetralogy of Fallot segregated independently in one family. The occurrence of the same syndrome in 2 unrelated families suggests that the various aspects of the disorder are the pleiotropic effects of a single mutation. Homozygosity-by-descent for a deletion involving contiguous genes may explain the findings in this syndrome. Alternatively, a mutation which involves an ubiquitous GDP fucose donor rather than the enzyme (alpha 2-L-fucosyltransferase) or its substrate (glcNAc) may account for the pleiotropic manifestations in this syndrome.

ABO Blood-Group System↗
PubMed1992

Clinical phenotype and molecular analysis of a three-generation family with an interstitial deletion of the short arm of chromosome 5.

We report on a 3-generation family with an interstitial deletion of the short arm of chromosome 5. Varied manifestations were found among the affected individuals including microcephaly, hypertonia, and micrognathia; mental retardation was common to all affected individuals. High resolution chromosome analysis was interpreted as del(5) (pter- > p14.3::p13.3- > qter). Molecular comparison of the deletion in this family with individuals with other 5p deletions suggests that the clinical findings are due specifically to the chromosomal material deleted from 5p13.

Abnormalities, Multiple↗
PubMed1992

X-linked recessive inheritance of dysgenesis of corpus callosum in a Chinese family.

This report describes a new syndrome of dysgenesis of corpus callosum with other anomalies, presenting as microcephaly, mental retardation, spasticity, and unusual facial appearance in 2 Chinese brothers and their maternal cousins. To date, there has not been any case reported in the Chinese population of this syndrome. All 4 patients in this report present with the same unusual face. Hydrocephalus and/or interhemispheric cyst were found among them. This syndrome is transmitted as an X-linked trait. The nosology is reviewed and discussed.

Agenesis of Corpus Callosum↗
PubMed1993

Premature aging and immunodeficiency: Mulvihill-Smith syndrome?

We report on a 30-year-old woman with premature aging, immunodeficiency, and other abnormalities. She had many manifestations of the Mulvihill-Smith syndrome, a disorder that has been described in 4 sporadic individuals, ranging in age from 4 to 17 years. The common manifestations include short stature, microcephaly, a senile face with an underdeveloped lower half, diminished facial subcutaneous fat, multiple pigmented nevi, sensorineural hearing loss, and a low IgG level. Our patient also had severe mental retardation, brachydactyly, severe T cell dysfunction, and suffered from severe verruca vulgaris and a chronic, active Epstein-Barr virus infection. The fact that her parents were first cousins suggests autosomal recessive inheritance of her disorder. Two alternative possibilities were considered: the disorder in the patient represents the Mulvihill-Smith syndrome with immune deficiency as a sign of its advanced stage, or a hitherto undescribed syndrome.

Adult↗
PubMed1993

Cytogenetic and molecular identification of a de novo direct duplication of the long arm of chromosome 4(q21.3-->q31.3).

We report on a 3-year-old boy with moderate developmental retardation, microcephaly, and malformations of ears, lids, mouth, and thumbs. Cytogenetic analysis demonstrated a direct duplication of chromosome subregion 4(q21.3-->q31.3). Confirmation of this specific rearrangement was performed by fluorescent in situ hybridization (FISH) with a chromosome painting probe and by means of quantitative Southern hybridization with DNA probes localized within the chromosome 4 region presumed to be duplicated.

Abnormalities, Multiple↗
PubMed1993

Clinical and molecular analyses of deletion 3p25-pter syndrome.

Hemizygous deletion of 3p25-pter is associated with a phenotype of profound growth failure, microcephaly, characteristic facial changes, and mental retardation. Since the severity may be quite variable, we have studied 3 cases of del 3p25-pter to define the clinical manifestations and the critical chromosome region for phenotypic expression. The patient we now report died at age 6 months and provided an opportunity for a detailed necropsy analysis for only the second time in a del(3p) patient. He had marked hypoplasia of all organs, hypomyelination of white matter, and multiple renal cortical microcysts. Ordered genomic markers from the distal regions of chromosome 3p aided in determining the parent of origin of each deletion and in defining the boundaries of the deleted chromosomal segments. The deleted markers distal to the RAF1 oncogene in 2 of the 3 patients were consistently hemizygous. One patient had an interstitial deletion based on evidence of diploid inheritance of one of the most distal loci (D3S17). Available genetic linkage maps suggest that the deletion spans at least 19 centimorgans (cM).

Abnormalities, Multiple↗
PubMed1993

Galloway-Mowat syndrome of abnormal gyral patterns and glomerulopathy.

The combination of microcephaly, gyral abnormalities, developmental delay, and a glomerulopathy constitutes a recognizable syndrome. The inheritance is autosomal recessive. Additional abnormalities may include seizures, minor facial anomalies, and hiatal hernia. Onset of proteinuria often occurs in the first 3 months of life, but always before age 3 years. A uniform pattern of renal histologic changes has not been found. There is no effective treatment for the neurologic or renal manifestations of this condition. The prognosis is extremely poor; every patient but one has died before age 5 1/2 years. Antenatal diagnosis may be possible.

Abnormalities, Multiple↗