title: Neu Laxova syndrome in two Egyptian families.
abstract: 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.
authors.affiliation: Human Genetics Department, National Research Center, Cairo, Egypt.
authors.forename: N
authors.initials: N
authors.lastname: Abdel Meguid
authors.forename: S A
authors.initials: SA
authors.lastname: Temtamy
mesh_terms: D000015:Abnormalities, Multiple; D003241:Consanguinity; D004534:Egypt; D005145:Face / Q000002:abnormalities; D005260:Female; D005317:Fetal Growth Retardation; D006801:Humans; D007057:Ichthyosis; D007231:Infant, Newborn; D007596:Joints / Q000002:abnormalities; D008297:Male; D008831:Microcephaly; D011247:Pregnancy