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[Coffin-Lowry syndrome and hyperprolinemia].
Arch Fr Pediatr. 1993 Jun-Jul; 50(6):489-92.AF

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.

Authors+Show Affiliations

Service de Pédiatrie et Génétique Médicale, Pellegrin-Hôpital d'Enfants, Bordeaux.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
English Abstract
Journal Article

Language

fre

PubMed ID

8135609

Citation

Lacombe, D, et al. "[Coffin-Lowry Syndrome and Hyperprolinemia]." Archives Francaises De Pediatrie, vol. 50, no. 6, 1993, pp. 489-92.
Lacombe D, Parrot-Roulaud F, Castell JF, et al. [Coffin-Lowry syndrome and hyperprolinemia]. Arch Fr Pediatr. 1993;50(6):489-92.
Lacombe, D., Parrot-Roulaud, F., Castell, J. F., Serville, F., Hehunstre, J. P., & Battin, J. (1993). [Coffin-Lowry syndrome and hyperprolinemia]. Archives Francaises De Pediatrie, 50(6), 489-92.
Lacombe D, et al. [Coffin-Lowry Syndrome and Hyperprolinemia]. Arch Fr Pediatr. 1993 Jun-Jul;50(6):489-92. PubMed PMID: 8135609.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Coffin-Lowry syndrome and hyperprolinemia]. AU - Lacombe,D, AU - Parrot-Roulaud,F, AU - Castell,J F, AU - Serville,F, AU - Hehunstre,J P, AU - Battin,J, PY - 1993/6/1/pubmed PY - 1993/6/1/medline PY - 1993/6/1/entrez SP - 489 EP - 92 JF - Archives francaises de pediatrie JO - Arch Fr Pediatr VL - 50 IS - 6 N2 - 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. SN - 0003-9764 UR - https://www.unboundmedicine.com/medline/citation/8135609/[Coffin_Lowry_syndrome_and_hyperprolinemia]_ L2 - http://www.diseaseinfosearch.org/result/1709 DB - PRIME DP - Unbound Medicine ER -