Microcephaly with chorioretinal dysplasia: characteristic facial features.
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Adult↗
Biomedical subjects
G M Abdel-Salam
Publications and source records attributed to G M Abdel-Salam.
Association of epilepsy with different groups of microcephaly.
Sixty-six participants (33 males, 33 females) with microcephaly (MC), age range from 2 to 19 years old, were evaluated. MC was classified pathogenetically into isolated MC (IMC) and multiple MC (MMC) and classified etiologically into primary MC (PMC) and secondary MC (SMC). Both IMC and MMC were further classified. Overall prevalence of epilepsy was 40.9%. Furthermore, there was a significantly higher prevalence of epilepsy in males. Main seizure type was generalized tonic-clonic seizures. Generally, learning disability (LD) was diagnosed in 93.9% and profound LD was evident in 43.9% of participants. There was an inverse correlation between severity of epilepsy and IQ but a positive correlation between severity of epilepsy and degree of LD. Differences in the success rate between monotherapy and polytherapy or response to antiepileptic drugs were not observed. Results suggest that epilepsy may be associated with the lower cognitive ability of the participants with microcephaly. The pathogenetic classification proposed is of value in delineating the prevalence of epilepsy and LD in the different varieties of MC as compared with the etiological classification.
Adolescent↗
Microcephaly, microphthalmia, congenital cataract, with calcification of the basal ganglia: MCA/MR syndrome.
We present a Hungarian girl with microcephaly, microphthalmia, congenital cataract, prominent nasal root, peaked nose, micrognathia with high arched palate, mild mental retardation, calcification of the basal ganglia and serology for the connatal infections. We suggest that our proband may be an allelic variant of COFS syndrome.
Adolescent↗
Microcephaly with normal intelligence, and chorioretinopathy.
An 18-year-old girl had microcephaly without mental or neurological disabilities. She had hypoplastic mandible, long cup-shaped ears, bilateral incurved little fingers, bilateral retinal pigmentation, and scattered areas of depigmentation as well as a history of osteochondroma. However, genetic test for mutation analysis of exon 15 of the APC gene showed negative results. To the best of our knowledge, this is the third case to be reported with microcephaly, normal intelligence, and bilateral congenital hypertrophy of the retinal pigment epithelium (CHRPE).
Adenomatous Polyposis Coli Protein↗
A new case of neonatal progeroid syndrome with agenesis of corpus callosum.
We report on a female infant with a history of severe intrauterine and postnatal growth retardation, pseudohydrocephaloid cranium, frontal bossing, widened fontanelles, prominent scalp veins, progeroid face, entropion, beaked nose, small mouth, generalized lipodystrophy, camptodactyly and hypoplasia of lower limb muscles, suggesting the diagnosis of neonatal progeroid syndrome (NPS). In addition, she had congenital hip dysplasia and agenesis of corpus callosum. It is the first Hungarian case with neonatal progeroid syndrome.
Abnormalities, Multiple↗