Search results for "Microcephaly"
showing 10 items of 70 documents
A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation.
2007
X-linked mental retardation has been traditionally divided into syndromic (S-XLMR) and non-syndromic forms (NS-XLMR), although the borderlines between these phenotypes begin to vanish and mutations in a single gene, for example PQBP1, can cause S-XLMR as well as NS-XLMR. Here, we report two maternal cousins with an apparently X-linked phenotype of mental retardation (MR), microphthalmia, choroid coloboma, microcephaly, renal hypoplasia, and spastic paraplegia. By multipoint linkage analysis with markers spanning the entire X-chromosome we mapped the disease locus to a 28-Mb interval between Xp11.4 and Xq12, including the BCOR gene. A missense mutation in BCOR was described in a family with …
Two patients with EP300 mutations and facial dysmorphism different from the classic Rubinstein-Taybi syndrome
2009
Rubinstein-Taybi syndrome (RTS) is characterized by mental retardation, broad thumbs and great toes and a recognizable craniofacial phenotype. Causative mutations have been described in the CREBBP and EP300 genes. Here we present a 19-year-old woman and an unrelated 3-year-old boy, both with broad thumbs and halluces, but with facial aspects distinct from those of typical RTS. The woman had a marked learning disability, but no mental retardation. We identified a de novo c.7100delC mutation in EP300 (which predicts p.P2366RfsX35) in the woman and an apparently de novo c.638delG mutation in the boy, which predicts p.G213EfsX6. Mutations in EP300 are a known but rare cause of RTS. Only five ot…
Prenatal head growth and child neuropsychological development at age 14 months
2014
We sought to assess the association between prenatal head growth and child neuropsychological development in the general population.We evaluated 2104 children at the age of 14 months from a population-based birth cohort in Spain. Head circumference (HC) was measured by ultrasound examinations at weeks 12, 20, and 34 of gestation and by a nurse at birth. Head growth was assessed using conditional SD scores between weeks 12-20 and 20-34. Trained psychologists assessed neuropsychological functioning using the Bayley Scales of Infant Development. Head size measurements at birth were transformed into a 3-category variable: microcephalic (10th percentile), normocephalic (≥10th and90th percentile)…
Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary toVPS13Bmutations
2013
Over one hundred VPS13B mutations are reported in Cohen syndrome (CS). Most cases exhibit a homogeneous phenotype that includes intellectual deficiency (ID), microcephaly, facial dysmorphism, slender extremities, truncal obesity, progressive chorioretinal dystrophy, and neutropenia. We report on a patient carrying two VPS13B splicing mutations with an atypical phenotype that included microcephaly, retinopathy, and congenital neutropenia, but neither obesity nor ID. RNA analysis of the IVS34+2T_+3AinsT mutation did not reveal any abnormal splice fragments but mRNA quantification showed a significant decrease in VPS13B expression. RNA sequencing analysis up- and downstream from the IVS57+2T>C…
Congenital hypertrophy of the retinal pigment epithelium and familial polyposis of the colon.
1987
Inquiries to Manuel Diaz Llopis, M.D., Cl Cirilo Amoros No. 1 PTA 2, Valencia 46004, Spain. Familial polyposis of the colon is a dominant autosomal disorder that is characterized by hundreds and sometimes thousands of adenomatous polyps throughout the entire colon, which begin in adolescence. Virtually all pa tients with familial polyposis develop carcino ma of the colon by age 50 years. A total colectomy should be carried out early in adult life in affected persons. Because of the autosomal dominant inheritance pattern, an intensive sur vey of family members must be conducted. There is no phenotype biochemical abnormality or serologic marker that indicates whether a familial member will…
Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome.
2022
Funder: Università degli Studi di Catania
Chondrodysplasia punctata — Rhizomelic form
1976
Pathologic, ultrastructural and radiologic studies are described on 3 infants with the rhizomelic form of chondrodysplasia punctata. Radiologic criteria in the young infant include radiolucent coronal clefts dividing all or most of the thoracic and lumbar vertebral bodies, short humeri with flared metaphyses and punctate calcifications commonly present adjacent to the ossified ischial and pubic bones and less commonly in other locations. In late infancy and childhood the radiologic criteria include demineralization in all bones with slow maturation, flat vertebral bodies, short humeri and femora, metaphyseal flaring, especially in the distal humerus, proximal femur and proximal tibia, immat…
Microcephaly and macrocephaly. A study on anthropometric and clinical data from 308 subjects
2019
Head circumference is the auxological parameter that most correlates with developmental anomalies in childhood. Head circumference (HC) two standard deviations (SD) below or above the mean defines microcephaly and macrocephaly, respectively. The aim of this retrospective study was to explore anthropometric parameters and clinical characteristics among subjects with abnormalities in HC who had been referred for developmental assessment. One hundred and sixty four subjects with microcephaly and 144 subjects with macrocephaly were enrolled from birth to 18 months of age. Head circumference at birth and the association with variables related to maternal health status, gestational age, growth pa…
Dysmorphic face, precociously senile appearance, microcephaly, growth retardation and neuropsychomotor delay
2005
Cockayne's syndrome is a rare recessive autosomal disorder. Its frequency at birth is very low. In the classical form (type 1) the clinical appearance becomes evident by the second year of life. Itis characterized by severe growth delay, microcephaly, progressive loss of adipose tissue, senile appearance, dysmorphic facial features, ocular anomalies (retinal pigmentary degeneration, nistagmus, cataract, optic atrophy).
Genome-wide mapping of copy number variations in patients with both anorectal malformations and central nervous system abnormalities
2014
Background: Anorectal malformations (ARM) have a prevalence of around 1 in 2500 live births. In around 50% of patients, the malformation is isolated, while in the remainder it arises within the context of complex genetic abnormalities or a defined genetic syndrome. Recent studies have implicated rare copy number variations (CNVs) in both isolated and nonisolated ARM, and identified plausible candidate genes. Methods: In the present study, array-based molecular karyotyping was performed to identify causative CNVs in 32 sporadic ARM patients with comorbid abnormalities of the central nervous system (CNS). This phenotype was selected to enrich for rare CNVs, since previous research has implica…