AI Article Synopsis
- Coffin-Lowry syndrome is characterized by mental retardation, unique facial features, skeletal abnormalities, and is likely inherited in an X-linked dominant manner.
- A 31-month-old boy exhibited signs of the syndrome, including mental retardation and distinct facial and hand features, along with abnormal amino acid levels.
- The findings suggest a coincidental link between Coffin-Lowry syndrome and hyperprolinemia observed in the family members, rather than a direct causal relationship.
Article Abstract
Background: The main features of the Coffin-Lowry syndrome are mental retardation and features of a peculiar pugilistic nose, large ears, tapered fingers, drumstick terminal phalanges by X-rays and kyphoscoliosis. Inheritance is probably X-linked dominant. Its early diagnosis is difficult.
Case Report: A 31 month-old boy was admitted for mental retardation. His weight and height were normal, but his facies showed telecanthus, anteverted nares and a prominent frontal region. His hands appeared puffy with bulbous tapering fingers. Amino-acid chromatography showed hyperprolinemia (732 mumol/l) plus iminoglycinuria. His mother had a short stature, mental retardation and similar, although minor, manifestations of the Coffin-Lowry syndrome in her face, hands and fingers. She had moderate hyperprolinemia (391 mumol/l) without hyperglycinuria. The patient's father showed no physical abnormalities, but he also had hyperprolinemia (671 mumol/l) and hyperglycinuria.
Conclusion: The association of the Coffin-Lowry syndrome and hyperprolinemia in this family seems fortuitous.
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