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At least 235 records · Page 13Linked to original sources
PubMed1992

Syndrome of microcephaly, Brachmann-de Lange-like facial changes, severe metatarsus adductus, and developmental delay: mild Brachmann-de Lange syndrome?

We report on 4 individuals (3 sibs and their father) with a syndrome of growth retardation, microcephaly, minor facial anomalies reminiscent of a mild Brachmann-de Lange syndrome (BDLS), severe metatarsus adductus, developmental delay, and unusual dermatoglyphics. The syndrome, which seems to be inherited as an autosomal dominant trait with variable expressivity, resembles mild BDLS.

Adult↗
PubMed1993

Microcephaly and digital anomalies: a newly recognized syndrome of recessively inherited mental retardation.

We describe 2 brothers with congenital microcephaly and moderately severe mental retardation. The presence of identical and symmetrical digital anomalies suggests that this constellation represents a clinically recognizable recessively inherited mental retardation syndrome. Recognition of the clinical diagnosis should provide accurate genetic counseling to parents of a single affected child.

Abnormalities, Multiple↗
PubMed1993

Dir dup(X) (q13-->qter) in a girl with growth retardation, microcephaly, developmental delay, seizures, and minor anomalies.

In males, duplication of a portion of Xq is associated with multiple congenital anomalies and developmental delay. Most females recognized as having dup(Xq) are phenotypically apparently normal relatives of phenotypically abnormal males; phenotypic normalcy has been attributed to selective inactivation of the duplicated X chromosome. Heretofore, apparently only 5 distinctly phenotypically abnormal females with dup(Xq) have been reported. We report on a 3-year-old girl with developmental delay, growth retardation, microcephaly, minor anomalies, and a seizure disorder who had a nonmosaic, de novo direct duplication of the terminal portion of one X chromosome. In each of 50 lymphocytes examined, the duplicated X chromosome was found to be late-replicating. This case shows that selective inactivation (as reflected by late replication) of the duplicated X chromosome does not inevitably confer phenotypic normalcy on females with dup(Xq), and suggests that other mechanisms must account for the phenotypic differences observed among females with dup(Xq), such as expression of recessive genes on the active X chromosome, incomplete inactivation of some portion of the duplicated chromosomal segment, an imprinting effect, or some combination of these.

Abnormalities, Multiple↗
PubMed1993

Chorioretinal dysplasia-microcephaly-mental retardation syndrome: report of an American family.

Recently we evaluated an American family with the chorioretinal dysplasia-microcephaly-mental retardation syndrome (CDMMS, McKusick #156590). The male-to-male transmission observed for the first time in the family of this report confirms autosomal dominant inheritance. Analysis of our cases and review of the literature illustrates the variable expressivity of this disorder and demonstrates the need for careful ophthalmologic evaluations of at-risk relatives in order to provide accurate recurrence risks.

Abnormalities, Multiple↗
PubMed1993

Distinctive autosomal or X-linked dominant syndrome of microcephaly, mild developmental delay, short stature, and distinctive face.

We report on a mother and two sons with a syndrome of microcephaly, short stature, a distinctive face, broad thumbs and great toes, and mild developmental delay. There are similarities to the patients reported by Bawle and Horton [Am J Med Genet 33:382-384, 1989] and Evans [Clin Genet 39:178-180, 1991] but it is not certain whether the patients have the same condition. Inheritance could either be autosomal or X-linked dominant.

Adult↗
PubMed1994

X-linked mental retardation, microcephaly, and growth delay associated with hereditary bullous dystrophy macular type: report of a second family.

We report on 2 patients with mental retardation and bullous dystrophy, macular type. The observation of the condition in a male and his maternal uncle is consistent with recessive X-linkage. Due to the rarity of the condition, nosologic definition was difficult before the birth of the propositus. The clinical picture in the two patients described, characterized by mental retardation, dwarfism, microcephaly, alopecia, bullous dystrophy macular type, hypogenitalism, is very much like the one observed in the patients, all males, belonging to the only other family reported to date. The recent localization of the bullous dystrophy gene in the Xq24-qter segment opens the possibility of prenatal diagnosis.

Abnormalities, Multiple↗
PubMed1994

Autosomal recessive congenital intrauterine infection-like syndrome of microcephaly, intracranial calcification, and CNS disease.

We present data on 10 patients from 5 families with a condition of microcephaly, intracranial calcification, and a clinical course resembling congenital TORCH infection. Repeatedly, negative TORCH investigations are a prerequisite for the identification of this disorder and the value of disturbed liver function and thrombocytopenia as aids to diagnosis is emphasised. Several similar families with recurrence of the disease in sibships are identified in the literature and the genetic implications of our observations are considered.

Brain↗
PubMed1995

Eleven Polish patients with microcephaly, immunodeficiency, and chromosomal instability: the Nijmegen breakage syndrome.

We report on 11 patients from 8 independent families (3 pairs of sibs) with a complex clinical pattern including microcephaly, peculiar "bird-like" face, growth retardation, and, in some cases, mild-to-moderate mental deficiency. Most of the patients have recurring respiratory tract infections. One girl has developed B-cell lymphoma. A detailed anthropometric study of 15 physical parameters, including 3 cephalic traits, was performed. It was possible to study the chromosomes of PHA-stimulated lymphocytes in all of the patients. We found structural aberrations with multiple rearrangements, preferentially involving chromosomes 7 and 14 in a proportion of metaphases in all individuals. Profound humoral and cellular immune defects were observed. Serum AFP levels were within normal range. Radioresistant DNA synthesis was strongly increased in all 8 patients who were hitherto studied in this respect. Our patients fulfill the criteria of the Nijmegen breakage syndrome, which belongs to the growing category of ataxia telangiectasia-related genetic disorders. In light of the increased predisposition to malignancy in this syndrome, an accurate diagnosis is important for the patient.

Adolescent↗
PubMed1995

Microdontia with severe microcephaly and short stature in two brothers: osteodysplastic primordial dwarfism with dental findings.

Two brothers from a black family had microcephaly, short stature, and generalized microdontia. Endocrine and chromosome studies were normal, and mild skeletal manifestations were present. The patients may represent a distinct dental-skeletal dysplasia, possibly osteodysplastic primordial dwarfism type II. Attention to dental manifestations in similar cases may be useful for classification.

Adolescent↗
PubMed2001

Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia.

We report a boy, born to consanguineous patients, with agammaglobulinemia associated with multiple physical anomalies: mild intrauterine growth retardation, extreme microphthalmia (clinical anophthalmia), severe microcephaly, blepharophimosis, long face with temporal narrowing, scaphocephalic skull shape, posterior cleft palate, hypoplastic, adducted thumbs with small nails, and short, inward turned halluces with absent distal phalanges and nails. Psychomotor development was moderately delayed. No mutations were found in exons of BKT and PAX-5 genes. This unreported constellation could represent a novel, autosomal recessive syndrome.

Abnormalities, Multiple↗
PubMed2006

A newly recognized, likely autosomal recessive syndrome comprising agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis, and other features.

We present a novel, likely autosomal recessive, multi-system disorder seen in three siblings, two males and one female, born to nonconsanguineous parents. The disease manifests as agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choanae, and blepharophimosis. The constellation of clinical signs seen in this family likely represents a new and recognizable form of agammaglobulinemia due to a defect in early B-cell maturation.

Abnormalities, Multiple↗
PubMed2006

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.

The importance of O-glycosylation of alpha-dystroglycan (alpha-DG) is evident from the identification of POMT1 mutations in Walker-Warburg syndrome (WWS). Approximately one-fifth of the WWS patients show mutations in POMT1, which result in complete loss of protein mannosyltransferase activity. WWS patients are characterized by congenital muscular dystrophy (CMD) with severe brain and eye abnormalities. This suggests a crucial role for alpha-DG during development of these organs and tissues. Here we report new POMT1 mutations and polymorphisms in WWS patients. In addition, we report different compound heterozygous POMT1 mutations in four unrelated families that result in a less severe phenotype than WWS, characterized by CMD with calf hypertrophy, microcephaly, and mental retardation. Compared to WWS patients, these patients have milder structural brain abnormalities, and eye abnormalities were absent, except for myopia in some cases. In these patients we postulate that one or both transcripts for POMT1 confer residual protein O-mannosyltransferase activity. Our data suggest the existence of a disease spectrum of CMD including brain and eye abnormalities resulting from POMT1 mutations.

Adolescent↗
PubMed2006

Prenatal diagnosis of primary microcephaly in two consanguineous families by confrontation of morphometry with DNA data.

BACKGROUND: Prenatal diagnosis of autosomal recessive primary microcephaly (MCPH) is hampered by the fact that fetal head size is normal until late in the pregnancy, and by the vast genetic heterogeneity and impractically large size of the currently known genes for the disorder. OBJECTIVE: Combine DNA and morphometric approaches into earlier prenatal diagnosis of MCPH. METHODS: We evaluated two consanguineous families affected with MCPH with an ongoing, second-trimester pregnancy. Fetal heads were evaluated by serial ultrasound scannings, and DNA was sampled from parents, probands, and fetal cells, for a focused mutation search and linkage analysis. RESULTS: DNA linkage analysis and fetal head morphometry were concordant in one family and probably concordant in the second, showing a healthy fetus and an affected fetus, respectively. CONCLUSIONS: Cautious confrontation of linkage and morphometric data in selected cases of MCPH from consanguineous families may decrease false-positive and false-negative errors of second-trimester prenatal diagnosis.

Adult↗
PubMed1988

Microcephaly, holoprosencephaly, hypokinesia--second report of a new syndrome.

Two still-born males whose mothers were sisters are presented. The features holoprosencephaly, hypokinesia, microcephaly, talipes, and other contractures correspond to those in the two male sibs reported by Morse et al. (1987). We suggest that our cases now provide evidence of an X-linked rather than an autosomal recessive new syndrome.

Abnormalities, Multiple↗