Abstract
Report on a second family. The patients, an 18-year-old boy and his 15-year-old sister, have pre and postnatal short stature, microcephaly, moderate to severe mental retardation, and cutaneous syndactylies of hands and feet. In addition, they show a mildly dysmorphic but apparently characteristic face. Radiologically, hands and feet demonstrate brachydactyly, metacarpals and metatarsals being the most severely affected. This observation confirms that this multiple congenital anomalies/mental retardation pattern is a distinct, probably autosomal recessively inherited entity.
MeSH terms
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Abnormalities, Multiple / diagnosis
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Abnormalities, Multiple / genetics*
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Adolescent
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Diagnosis, Differential
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Face / abnormalities
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Female
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Foot Deformities, Congenital / diagnostic imaging
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Foot Deformities, Congenital / genetics
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Genes, Recessive
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Growth Disorders / diagnosis
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Growth Disorders / genetics*
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Hand Deformities, Congenital / diagnostic imaging
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Hand Deformities, Congenital / genetics
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Humans
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Intellectual Disability / diagnosis
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Intellectual Disability / genetics*
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Male
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Microcephaly / diagnosis
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Microcephaly / genetics*
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Radiography
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Speech Disorders / diagnosis
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Speech Disorders / genetics
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Syndactyly / diagnosis
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Syndactyly / genetics*
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Syndrome