Case Reports
doi: 10.1002/ajmg.1320160405.
A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies
- PMID: 6660246
- DOI: 10.1002/ajmg.1320160405
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Case Reports
A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies
Am J Med Genet.
1983 Dec.
Abstract
In four children from the same family, we have observed an association of mental retardation, dwarfism, hypertelorism, facial clefting and urogenital abnormalities. Clinical and laboratory data suggest that it is a previously undescribed genetic syndrome, ie, a pleiotropic autosomal recessive trait.
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