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PubMed · 8135609

[Coffin-Lowry syndrome and hyperprolinemia].

D Lacombe·F Parrot-Roulaud·J F Castell·F Serville·J P Hehunstre·J Battin
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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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Abnormalities, MultipleAdultChild, PreschoolFacial BonesFemaleHand Deformities, CongenitalHumansIntellectual DisabilityMaleProlineSkullSyndromeX ChromosomeCase ReportsEnglish AbstractJournal Article

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D Lacombe, F Parrot-Roulaud, J F Castell, F Serville, J P Hehunstre, J Battin. [Coffin-Lowry syndrome and hyperprolinemia].. https://pubmed.ncbi.nlm.nih.gov/8135609/

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