Add to ORKGYoung and Simpson in 1987 and Fryns and Moerman in 1988 each reported a case of a new unknown syndrome with hypothyroidism, severe global retardation, and abnormal facies, including microcephaly, blepharophimosis, bulbous nose, thin upper lip, low set ears, and micrognathia. A male infant with a similar pattern of malformations and postaxial polydactyly is reported here.26785-
Two unrelated patients, a 4-year-old boy and a 2 1/2-year-old girl, presented with a similar pattern...
A new syndrome: multiple congenital abnormalities and mental retardation in two brothers: In this re...
A syndrome involving facial abnormalities (telecanthus, epicanthus, broad flattened nose, large inve...
abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient SUMM...
severe retardation: a second patient SUMMARY In the November 1987 issue of this journal, Young and S...
A male patient presented with a pattern of congenital malformations including macrocephaly, absence ...
A patient is described with severe mental retardation, a peculiar face with small palpebral fissures...
We report a male infant with an association of hypothyroidism and unusual facies, including blepharo...
microcephaly, and iris coloboma: a new syndrome of defective neuronal migration SUMMARY We describe ...
We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BM...
We present two siblings from unrelated parents presenting with intrauterine growth retardation, a co...
In this report we present two brothers with abnormal neurological development, hypotonia, short stat...
Cerebro-Oculo-Nasal syndrome, a new multiple congenital anomaly/mental retardation syndrome was firs...
We report a patient with severe mental retardation (MR), microcephaly, Dandy–Walker malformation, bi...
We report a 6 year old male with a pattern of malformations and anomalies including intrauterine gro...
Two unrelated patients, a 4-year-old boy and a 2 1/2-year-old girl, presented with a similar pattern...
A new syndrome: multiple congenital abnormalities and mental retardation in two brothers: In this re...
A syndrome involving facial abnormalities (telecanthus, epicanthus, broad flattened nose, large inve...
abnormal facies, hypothyroidism, postaxial polydactyly, and severe retardation: a third patient SUMM...
severe retardation: a second patient SUMMARY In the November 1987 issue of this journal, Young and S...
A male patient presented with a pattern of congenital malformations including macrocephaly, absence ...
A patient is described with severe mental retardation, a peculiar face with small palpebral fissures...
We report a male infant with an association of hypothyroidism and unusual facies, including blepharo...
microcephaly, and iris coloboma: a new syndrome of defective neuronal migration SUMMARY We describe ...
We report on 11 patients from 8 families with a blepharophimosis and mental retardation syndrome (BM...
We present two siblings from unrelated parents presenting with intrauterine growth retardation, a co...
In this report we present two brothers with abnormal neurological development, hypotonia, short stat...
Cerebro-Oculo-Nasal syndrome, a new multiple congenital anomaly/mental retardation syndrome was firs...
We report a patient with severe mental retardation (MR), microcephaly, Dandy–Walker malformation, bi...
We report a 6 year old male with a pattern of malformations and anomalies including intrauterine gro...
Two unrelated patients, a 4-year-old boy and a 2 1/2-year-old girl, presented with a similar pattern...
A new syndrome: multiple congenital abnormalities and mental retardation in two brothers: In this re...
A syndrome involving facial abnormalities (telecanthus, epicanthus, broad flattened nose, large inve...