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[Sublethal microcephalic chondrodysplasia. Taybi-Linder syndrome, primordial microcephalic nanism types I and III].

Abstract

The authors describe a case of microcephalic dwarfism observed in a newborn until 10 months of age and discuss the diagnostic challenge. They show that the Taybi-Linder syndrome and the primordial dwarfism type I and type III of Majewski are an identical recessive autosomal entity. The radiological evolution explains the initial separation of type I and type III. Because of the skeletal lesions, lacking in the Seckel syndrome, the name of sublethal microcephalic chondrodysplasia is proposed for this disease.

Links

Authors+Show Affiliations

,

INSERM U 12 et CNRS ERA 178, Hôpital des Enfants-Malades, Paris.

Source

Archives francaises de pediatrie 47:2 1990 Feb pg 103-6

MeSH

Abnormalities, Multiple
Dwarfism
Exostoses, Multiple Hereditary
Humans
Infant
Infant, Newborn
Male
Microcephaly
Radiography
Syndrome

Pub Type(s)

Case Reports
Journal Article

Language

fre

PubMed ID

2327863

Citation

Maroteaux, P, and J Badoual. "[Sublethal Microcephalic Chondrodysplasia. Taybi-Linder Syndrome, Primordial Microcephalic Nanism Types I and III]." Archives Francaises De Pediatrie, vol. 47, no. 2, 1990, pp. 103-6.
Maroteaux P, Badoual J. [Sublethal microcephalic chondrodysplasia. Taybi-Linder syndrome, primordial microcephalic nanism types I and III]. Arch Fr Pediatr. 1990;47(2):103-6.
Maroteaux, P., & Badoual, J. (1990). [Sublethal microcephalic chondrodysplasia. Taybi-Linder syndrome, primordial microcephalic nanism types I and III]. Archives Francaises De Pediatrie, 47(2), pp. 103-6.
Maroteaux P, Badoual J. [Sublethal Microcephalic Chondrodysplasia. Taybi-Linder Syndrome, Primordial Microcephalic Nanism Types I and III]. Arch Fr Pediatr. 1990;47(2):103-6. PubMed PMID: 2327863.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Sublethal microcephalic chondrodysplasia. Taybi-Linder syndrome, primordial microcephalic nanism types I and III]. AU - Maroteaux,P, AU - Badoual,J, PY - 1990/2/1/pubmed PY - 1990/2/1/medline PY - 1990/2/1/entrez SP - 103 EP - 6 JF - Archives francaises de pediatrie JO - Arch. Fr. Pediatr. VL - 47 IS - 2 N2 - The authors describe a case of microcephalic dwarfism observed in a newborn until 10 months of age and discuss the diagnostic challenge. They show that the Taybi-Linder syndrome and the primordial dwarfism type I and type III of Majewski are an identical recessive autosomal entity. The radiological evolution explains the initial separation of type I and type III. Because of the skeletal lesions, lacking in the Seckel syndrome, the name of sublethal microcephalic chondrodysplasia is proposed for this disease. SN - 0003-9764 UR - https://www.unboundmedicine.com/medline/citation/2327863/[Sublethal_microcephalic_chondrodysplasia__Taybi_Linder_syndrome_primordial_microcephalic_nanism_types_I_and_III]_ L2 - http://www.diseaseinfosearch.org/result/1361 DB - PRIME DP - Unbound Medicine ER -