SUMMARY The clinical and neurodevelopmental features are presented of four children–two sibling pairs–who were exposed in utero to valproic acid. One of each pair of children presented for diagnosis and assessment of developmental delay; the other sibling was examined at a later date. Three of the children were globally developmentally delayed with marked speech disability, and had dysmorphic features consistent with fetal valproate syndrome. One also had features of infantile autism. The fourth child had some of the dysmorphic features connected with fetal valproate syndrome, but had normal intellect, with his verbal ability being significantly below his non‐verbal ability. He currently attends a school for learning‐disabled children. RÉSUMÉ Le syndrome foetal du valproate: données cliniques et neuro‐développementales dans deux paires de méme fratrie Les données cliniques et neuro‐développementales de quatrc enfants, deux paires de même fratrie, exposés in uteroá l'acide valproïque, sont présentées. Dans chaque paire, un enfant fut examiné initialement pour le diagnostic et l'évaluation d'un retard de développement; l'autre membre de la fratrie étant examiné ultérieurement. Chez trois des enfants, il fut noté un trouble net du langage, des caractéres dysmorphiques en rapport avec le syndrome foetal du valproate. Un enfant présentait en outre le tableau d'un autisme infantile. Le quatriéme enfant présentait quelques éléments dysmorphiques caractéristiques du syndrome foetal de valproate mais son intelligence était normale, bien que ses capacités verbales aient été manifestement inférieures á ses capacités non verbales. II fréquente actuellement une école pour enfants en difficultés d'apprentissage. ZUSAMMENFASSUNG Valproai‐Embryofelopathie: klinische und entwieklungsneurologische Merkmale bei zwei Zwillingspaaren Es werden die klinischen und entwicklungsneurologischen Merkmale bei vier Kindern—zwei Zwillingspaaren beschrieben, die in utero eine Exposition zu Valproinsaura hatten. Je ein Zwillingskind wurde wegen einer Entwicklungsverzögerung vorgestellt und untersucht, die beiden anderen Kinder wurden zu einem spateren Zeitpunkt untersucht. Drei der Kinder hatten eine globale Entwicklungsverzogerung mit ausgeprägten Sprachschwierigkeiten und Dysmorphiezeichen, die für die Valproat‐Embryofetopathie typisch sind. Ein Kind hatte außerdem Symptome eines infantilen Autismus. Das vierte Kind hatte einige der typischen Dysmorphiezeichen, aber es hatte einen normalen Intellekt, wobei seine verbalen Fähigkeiten signifikant schlechter waren als seine non‐verbalen. Zur Zeit besucht es eine Schule für lernbehinderte Kinder. RESUMEN Sindrome fetal del valproate: caracteristicas clinicas y neuroevolutivas en dos pares de hermanos Se presentan las caracteristicas clinicas y neuroevolutivas de cuatro niños (dos pares de hermanos) que habian sido expuestos in utero a ácido valproico. Uno de cada pareja de hermanos acudieron a la consulta para diagnóstico y evaluatión de un retraso en el desarrollo; el otro hermano fue examinado u...

Oculocutaneous albinism (OCA) is the most common autosomal recessive disorder among southern African Blacks. There are three forms that account for almost all OCA types in this region. Tyrosinase-positive OCA (OCA2), which is the most common, affects approximately 1/3,900 newborns and has a carrier frequency of approximately 1/33. It is caused by mutations in the P gene on chromosome 15. Brown OCA (BOCA) and rufous OCA (ROCA) account for the majority of the remaining phenotypes. The prevalence of BOCA is unknown, but for ROCA it is approximately 1/8,500. Linkage analysis performed on nine ROCA families showed that ROCA was linked to an intragenic marker at the TYRP1 locus (maximum LOD score = 3.80 at straight theta=.00). Mutation analysis of 19 unrelated ROCA individuals revealed a nonsense mutation at codon 166 (S166X) in 17 (45%) of 38 ROCA chromosomes, and a second mutation (368delA) was found in an additional 19 (50%) of 38 chromosomes; mutations were not identified in the remaining 2 ROCA chromosomes. In one family, two siblings with a phenotypically unclassified form of albinism were found to be compound heterozygotes for mutations (S166X/368delA) at the TYRP1 locus and were heterozygous for a common 2.7-kb deletion in the P gene. These findings have highlighted the influence of genetic background on phenotype, in which the genotype at one locus can be influenced by the genotype at a second locus, leading to a modified phenotype. ROCA, which in southern African Blacks is caused by mutations in the TYRP1 gene, therefore should be referred to as "OCA3," since this is the third locus that has been shown to cause an OCA phenotype in humans.

The presence of skin cancer was investigated in 111 albinos belonging to the black (Negro) population of Johannesburg, South Africa. The overall rate was 23.4%, the risk increasing with age. Identifiable risk factors included: environmental exposure to ultraviolet radiation; inability to produce ephelides (‘freckles’); and possibly ethnicity. The head was the site most commonly affected, and squamous was far more common than basal cell carcinoma. No melanomas were detected. Recommendations are made regarding prevention of skin cancer in the at‐risk group.