Literature DB >> 7381866

Recessive aplasia cutis congenita of the limbs.

N Freire-Maia, M Pinheiro, C C Ortega.   

Abstract

Six inbred persons (five males and one female) in three generations of a single family are reported as having simple congenital absence of skin on the upper or lower limbs or both. The data suggest an autosomal recessive pattern of inheritance for this apparently new clinical entity.

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Mesh:

Year:  1980        PMID: 7381866      PMCID: PMC1048516          DOI: 10.1136/jmg.17.2.123

Source DB:  PubMed          Journal:  J Med Genet        ISSN: 0022-2593            Impact factor:   6.318


  9 in total

1.  [APLASIA CUTIS CONGENITA. (DESCRIPTION OF A CASE IN THE PRODUCT OF INCEST)].

Authors:  F RILKE; L C RIVIERA
Journal:  Folia Hered Pathol (Milano)       Date:  1964-12

2.  Congenital absence of skin.

Authors:  A W FARMER; M D MAXMEN
Journal:  Plast Reconstr Surg Transplant Bull       Date:  1960-04

3.  Aplasia cutis congenita, spastic paralysis, and mental retardation.

Authors:  R Ruiz-Maldonado; L Tamayo
Journal:  Am J Dis Child       Date:  1974-11

4.  Aplasia cutis congenita in three successive generations.

Authors:  M Fisher; R Schneider
Journal:  Arch Dermatol       Date:  1973-08

5.  [Congenital skin agenesis: 6 recent cases].

Authors:  D Ollivier; H Janvier
Journal:  Ann Chir Plast       Date:  1969

6.  Aplasia cutis congenita.

Authors:  J H Deeken; R M Caplan
Journal:  Arch Dermatol       Date:  1970-10

7.  [Congenital cutaneous aplasia. Apropos of a case in an African newborn infant].

Authors:  J Sirol; H Revil; H Sagnet; J Thomas; Y Mafart
Journal:  Med Trop (Mars)       Date:  1967 Mar-Apr

8.  Johanson-Blizzard syndrome in a large inbred kindred with three involved members.

Authors:  M K Mardini; M Ghandour; N A Sakati; W L Nyhan
Journal:  Clin Genet       Date:  1978-11       Impact factor: 4.438

9.  Congenital scalp defects in mother and child.

Authors:  B D Cutlip; D M Cryan; W R Vineyard
Journal:  Am J Dis Child       Date:  1967-05
  9 in total

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