American Journal of Medical Genetics 36473-476 (1990)
Brief Clinical Report Autosomal Recessive Ectodermal Dysplasia, Cleft Lip/Palate, Mental Retardation, and Syndactyly: The Zlotogora-Ogur Syndrome Elaine S.O. Rodini and A. Richieri-Costa Laboratbrio de Genktica Humana, Hospital de Pesquisa e Reabilitqcio de LesLies Lzibio-Palatais, USP, Bauru, SP, Brazil We report on 3 Brazilian brothers born to normal consanguineous parents (F = 1/16) and presenting ectodermal dysplasia, cleft liplpalate, mental retardation, syndactyly of fingers 2-3, accessory nipples, and ear anomalies. The similarities of these 3 brothers to previously reported cases and the pattern of inheritance are discussed. KEY WORDS: MCAMR syndrome, consanguinity autosomal recessive inheritance INTRODUCTION Ectodermal dysplasia, cleft lip/palate, mental retardation and limb anomalies have been reported as component manifestations of several disorders [Rosselli and Gulienetti, 1961; F’reire-Maia, 1970: Bowen and Armstrong, 1976; Michels et al., 1978; Martinez et al., 1987; Zlotogora et al., 1987;Ogur and Yuksel, 19881.However, the cluster of anomalies presented by the patients here reported, as well as the inheritance (autosomal recessive), has been observed infrequently [Zlotogora et al., 1987; Ogur and Yuksel, 19881. Clinical and differential diagnoses of this condition are discussed. CLINICAL REPORTS Patient 1 ALBS (Figs. 1,2),the propositus (IV-15),was born at term after an uncomplicated 12th pregnancy to a 37year-old mother and a 39 year-old father. The vertex delivery was spontaneous and the birth weight was 3,080 kg; birth length and OFC were not recorded. Psychomotor development was delayed. Bilateral cleft lip/ palate and syndactyly were noticed at birth. The parents were first cousins and the outcomes of previous Received for publication August 20, 1989; revision received December 8, 1989. Address reprints requests to A. Richieri-Costa, Laborathio de Genktica Humana, Hospital de Pesquisa e Reabilitasho de LesBes LBbio-Palatais, USP, PO Box 620, 17043 Bauru, SP, Brazil.
0 1990 Wiley-Liss, Inc.
pregnancies were: 1)a similarly affected boy who died at age 10 days (IV-4),2)3 deaf children (IV-6, IV-8, IV-9) with no other related anomalies, 3) 2 children (IV-13, IV-14)who died neonatally with no apparent anomalies, 4) a girl (IV-10) who died at 21 months with severe delayed neuropsychological development, 5) a normal and married son and daughter (IV-5, IV-71, 6) 2 similarly affected boys (IV-11, IV-12). In a previous consanguineous marriage (also F = 1/16),the mother had: 1)a normal married son, 2) a son who died at 3 months with no apparent anomalies, and 3) a similarly affected son who died neonatally. Clinical examination of the mother showed accessory nipples, but no other anomalies. The propositus was first examined at age 5 years. He had a height of 100 cm (3rd centile), weight 16 kg (10th centile), OFC 51 cm (50th centile), inner canthal distance 3.2 cm (75th centile), outer canthal distance 9.8 cm (97th centile), severe mental retardation, brachycephaly, prominent forehead, bilateral ptosis, a characteristic 2.0 mm pit between the incisura intertragica and the upper region of the lobule (Fig. 3),bilateral cleft lip/palate, sparse, kinky hair and eyebrows, abnormal teeth, brittle nails, hypohidrosis, dry skin with palmar and plantar hyperkeratosis, accessory nipples, and syndactyly of fingers 2-3 (Fig. 4). Results of routine blood and urine tests were normal. G-banded chromosomes (peripheral lymphocytes) were normal. Radiological examination was normal.
Patient 2 ABS (IV-12) (Fig. 5), male, was born in 1974. Pregnancy was normal; spontaneous, at-term delivery. Birth weight, length, and OFC were not recorded. Bilateral cleft liplpalate and syndactyly were noticed at birth. Neuropsychological development was delayed. Examination at age 14 years showed: weight 26.5 kg (
Brief Clinical Report Autosomal Recessive Ectodermal Dysplasia, Cleft Lip/Palate, Mental Retardation, and Syndactyly: The Zlotogora-Ogur Syndrome Elaine S.O. Rodini and A. Richieri-Costa Laboratbrio de Genktica Humana, Hospital de Pesquisa e Reabilitqcio de LesLies Lzibio-Palatais, USP, Bauru, SP, Brazil We report on 3 Brazilian brothers born to normal consanguineous parents (F = 1/16) and presenting ectodermal dysplasia, cleft liplpalate, mental retardation, syndactyly of fingers 2-3, accessory nipples, and ear anomalies. The similarities of these 3 brothers to previously reported cases and the pattern of inheritance are discussed. KEY WORDS: MCAMR syndrome, consanguinity autosomal recessive inheritance INTRODUCTION Ectodermal dysplasia, cleft lip/palate, mental retardation and limb anomalies have been reported as component manifestations of several disorders [Rosselli and Gulienetti, 1961; F’reire-Maia, 1970: Bowen and Armstrong, 1976; Michels et al., 1978; Martinez et al., 1987; Zlotogora et al., 1987;Ogur and Yuksel, 19881.However, the cluster of anomalies presented by the patients here reported, as well as the inheritance (autosomal recessive), has been observed infrequently [Zlotogora et al., 1987; Ogur and Yuksel, 19881. Clinical and differential diagnoses of this condition are discussed. CLINICAL REPORTS Patient 1 ALBS (Figs. 1,2),the propositus (IV-15),was born at term after an uncomplicated 12th pregnancy to a 37year-old mother and a 39 year-old father. The vertex delivery was spontaneous and the birth weight was 3,080 kg; birth length and OFC were not recorded. Psychomotor development was delayed. Bilateral cleft lip/ palate and syndactyly were noticed at birth. The parents were first cousins and the outcomes of previous Received for publication August 20, 1989; revision received December 8, 1989. Address reprints requests to A. Richieri-Costa, Laborathio de Genktica Humana, Hospital de Pesquisa e Reabilitasho de LesBes LBbio-Palatais, USP, PO Box 620, 17043 Bauru, SP, Brazil.
0 1990 Wiley-Liss, Inc.
pregnancies were: 1)a similarly affected boy who died at age 10 days (IV-4),2)3 deaf children (IV-6, IV-8, IV-9) with no other related anomalies, 3) 2 children (IV-13, IV-14)who died neonatally with no apparent anomalies, 4) a girl (IV-10) who died at 21 months with severe delayed neuropsychological development, 5) a normal and married son and daughter (IV-5, IV-71, 6) 2 similarly affected boys (IV-11, IV-12). In a previous consanguineous marriage (also F = 1/16),the mother had: 1)a normal married son, 2) a son who died at 3 months with no apparent anomalies, and 3) a similarly affected son who died neonatally. Clinical examination of the mother showed accessory nipples, but no other anomalies. The propositus was first examined at age 5 years. He had a height of 100 cm (3rd centile), weight 16 kg (10th centile), OFC 51 cm (50th centile), inner canthal distance 3.2 cm (75th centile), outer canthal distance 9.8 cm (97th centile), severe mental retardation, brachycephaly, prominent forehead, bilateral ptosis, a characteristic 2.0 mm pit between the incisura intertragica and the upper region of the lobule (Fig. 3),bilateral cleft lip/palate, sparse, kinky hair and eyebrows, abnormal teeth, brittle nails, hypohidrosis, dry skin with palmar and plantar hyperkeratosis, accessory nipples, and syndactyly of fingers 2-3 (Fig. 4). Results of routine blood and urine tests were normal. G-banded chromosomes (peripheral lymphocytes) were normal. Radiological examination was normal.
Patient 2 ABS (IV-12) (Fig. 5), male, was born in 1974. Pregnancy was normal; spontaneous, at-term delivery. Birth weight, length, and OFC were not recorded. Bilateral cleft liplpalate and syndactyly were noticed at birth. Neuropsychological development was delayed. Examination at age 14 years showed: weight 26.5 kg (
