American Journal of Medical Genetics 42:449-452 (1992)
New Syndrome Short Stature, Mental Retardation, Eye Anomalies, and Cleft Lip/Palate A. Richieri-Costa and M.L. Guion-Almeida Serviqo de Genttica Clinica, Hospital de Pesquisa e Reabilitqcio de Lesdes Labw-Palatnis, Universidade de S h Paulo, Bauru, SP, Brazil
The syndrome: We describe 3 Brazilian brothers presenting a cluster of signs strongly suggesting a “new” MCNMR syndrome. The main clinical signs include short stature, microbrachycephaly, mental retardation, palpebral ptosis, coloboma of iris and retina, nystagmus, strabismus, and cleft lip/palate. This is either an autosomal or X-linked recessive trait.
KEY WORDS: Short stature, mental retardation,coloboma of the iris and retina, strabismus, nystag mus, cleft lip/palate, autosoma1 recessive, X-linked recessive inheritance
nystagmus; convergent strabismus, microphthalmia, coloboma of the iris, and an inferior coloboma of the disc and surrounding retina OD; mild malar hypoplasia; and a surgical scar resulting from cleft lip/palate correction on the right. Radiographs of the skull showed microbrachycephaly. Radiographs of the spine, chest, and limbs were normal. The results of laboratory blood tests were normal. G-banded metaphasic chromosomes of peripheral lymphocytes were normal.
Patient 2 IG (Figs. 4 and 5) was born in 1974. He was the 9th child of his parents. Pregnancy, delivery, and gestational antecedents were normal. Neuropsychological development was delayed. BW, TBL, and @FC were not recorded. A bilateral cleft lip/palate was noticed at birth. Examination at age 16 years revealed a height of 136.5cm (
New Syndrome Short Stature, Mental Retardation, Eye Anomalies, and Cleft Lip/Palate A. Richieri-Costa and M.L. Guion-Almeida Serviqo de Genttica Clinica, Hospital de Pesquisa e Reabilitqcio de Lesdes Labw-Palatnis, Universidade de S h Paulo, Bauru, SP, Brazil
The syndrome: We describe 3 Brazilian brothers presenting a cluster of signs strongly suggesting a “new” MCNMR syndrome. The main clinical signs include short stature, microbrachycephaly, mental retardation, palpebral ptosis, coloboma of iris and retina, nystagmus, strabismus, and cleft lip/palate. This is either an autosomal or X-linked recessive trait.
KEY WORDS: Short stature, mental retardation,coloboma of the iris and retina, strabismus, nystag mus, cleft lip/palate, autosoma1 recessive, X-linked recessive inheritance
nystagmus; convergent strabismus, microphthalmia, coloboma of the iris, and an inferior coloboma of the disc and surrounding retina OD; mild malar hypoplasia; and a surgical scar resulting from cleft lip/palate correction on the right. Radiographs of the skull showed microbrachycephaly. Radiographs of the spine, chest, and limbs were normal. The results of laboratory blood tests were normal. G-banded metaphasic chromosomes of peripheral lymphocytes were normal.
Patient 2 IG (Figs. 4 and 5) was born in 1974. He was the 9th child of his parents. Pregnancy, delivery, and gestational antecedents were normal. Neuropsychological development was delayed. BW, TBL, and @FC were not recorded. A bilateral cleft lip/palate was noticed at birth. Examination at age 16 years revealed a height of 136.5cm (
