American Journal of Medical Genetics 38539-541 (1991)
Brief Clinical Report
Ectrodactyly, Cleft Lip/Palate Syndrome Elaine S.O. Rodini, J.A.S. Freitas, and A. Richieri-Costa Laboratorio de Gene‘tica Humana, Hospital de Pesquisa e Reabilitqao de LesBes Lcibio-Palatais, USP, Bauru, SP, Brazil
We report on a Brazilian boy with ectrodactyly, cleft lip/palate, and abnormal pinnae. The clinical aspects involving this patient strongly suggest those reported by Lewis and Pashayan in 1981. Clinical and genetic aspects are discussed.
KEY WORDS: ectrodactyly, cleft lip/palate, EEC syndrome, ECP syndrome, autosomal dominant inheritance INTRODUCTION Ectrodactyly and cleft lip/palate are cardinal manifestations of some well known inherited syndromes [Walker and Clodnus, 1963; Rudiger et al., 1970; Opitz et al., 1980; Richieri-Costa and Miranda, 19881. However, the occurrence of additional anomalies may lead to the definitive diagnos,isofa syndromal form. Here we report on a Brazilian boy with this association, and discuss the differential diagnosis. CLINICAL REPORT DS (Fig. l),the propositus, was born in 1975to a G5P5 healthy mother and her unrelated husband. Pregnancy was normal. Absence of exposure to toxic or infectious agents or to X-rays. Normal, term delivery. He has a sister with cleft lip/palate without other anomaly. Birth weight, length, and OFC were not recorded. Cleft lip and palate and limb anomalies were noticed a t birth. Neuropsychological development was normal. Examination a t age 12 years showed height 147 cm (50th centile), weight 33,600 g (
Brief Clinical Report
Ectrodactyly, Cleft Lip/Palate Syndrome Elaine S.O. Rodini, J.A.S. Freitas, and A. Richieri-Costa Laboratorio de Gene‘tica Humana, Hospital de Pesquisa e Reabilitqao de LesBes Lcibio-Palatais, USP, Bauru, SP, Brazil
We report on a Brazilian boy with ectrodactyly, cleft lip/palate, and abnormal pinnae. The clinical aspects involving this patient strongly suggest those reported by Lewis and Pashayan in 1981. Clinical and genetic aspects are discussed.
KEY WORDS: ectrodactyly, cleft lip/palate, EEC syndrome, ECP syndrome, autosomal dominant inheritance INTRODUCTION Ectrodactyly and cleft lip/palate are cardinal manifestations of some well known inherited syndromes [Walker and Clodnus, 1963; Rudiger et al., 1970; Opitz et al., 1980; Richieri-Costa and Miranda, 19881. However, the occurrence of additional anomalies may lead to the definitive diagnos,isofa syndromal form. Here we report on a Brazilian boy with this association, and discuss the differential diagnosis. CLINICAL REPORT DS (Fig. l),the propositus, was born in 1975to a G5P5 healthy mother and her unrelated husband. Pregnancy was normal. Absence of exposure to toxic or infectious agents or to X-rays. Normal, term delivery. He has a sister with cleft lip/palate without other anomaly. Birth weight, length, and OFC were not recorded. Cleft lip and palate and limb anomalies were noticed a t birth. Neuropsychological development was normal. Examination a t age 12 years showed height 147 cm (50th centile), weight 33,600 g (
