title: [Coffin-Lowry syndrome and hyperprolinemia].
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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  The association of the Coffin-Lowry syndrome and hyperprolinemia in this family seems fortuitous.
authors.affiliation: Service de Pédiatrie et Génétique Médicale, Pellegrin-Hôpital d'Enfants, Bordeaux.
authors.forename: D
authors.initials: D
authors.lastname: Lacombe
authors.forename: F
authors.initials: F
authors.lastname: Parrot-Roulaud
authors.forename: J F
authors.initials: JF
authors.lastname: Castell
authors.forename: F
authors.initials: F
authors.lastname: Serville
authors.forename: J P
authors.initials: JP
authors.lastname: Hehunstre
authors.forename: J
authors.initials: J
authors.lastname: Battin
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000328:Adult; D002675:Child, Preschool; D005147:Facial Bones / Q000002:abnormalities; D005260:Female; D006228:Hand Deformities, Congenital / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D011392:Proline / Q000097:blood*; D012886:Skull / Q000002:abnormalities; D013577:Syndrome; D014960:X Chromosome
chemical_list: D011392:Proline
vernacular_title: Syndrome de Coffin-Lowry et hyperprolinémie.