ABSTRACT
We report on a 2-month-old girl whose parents are first cousins. The patient has severe craniofacial anomalies characterized by: encephalocele, hypertelorism, midface hypoplasia, hypoplasia of frontal bone on the left side, malformed left eye, absent inner eyelashes, irregular S-shaped palpebral fissures, deformed nostrils, hypoplastic right nasal wing and cleft lip, and clefts of premaxilla, palate and uvula. No other malformations were observed. This association of anomalies suggests the diagnosis of frontofacionasal dysplasia. Parental consanguinity suggests autosomal recessive inheritance.
Subject(s)
Craniofacial Dysostosis/genetics , Abnormalities, Multiple/genetics , Consanguinity , Encephalocele/genetics , Eye Abnormalities , Female , Genes, Recessive , Humans , Infant , Nose/abnormalitiesABSTRACT
Os autores relatam um caso de sindrome de prune-belly que se caracteriza por uma triade clinica: agenesia da musculatura de parede abdominal, anormalidades do trato urinario e criptorquidia bilateral com diagnostico realizado no periodo neonatal
