Distal arthrogryposis type IIB in a girl: Autosomal recessive inheritance?

Summary

A 2-year-old girl with distal arthrogryposis type IIB is described. She is mental retarded, has congenital contractures of the hands and feet, ulnar deviation of the fingers, short stature, ptosis, blephalophimosis, epicanthal folds, large prominent ears, a short neck and abnormal dermatoglyphic patterns. In addition, she shows several clinical features not characteristic of the syndrome. These features include delayed osseous maturation, a preauricular pit, a narrow and high-arched palate, pectus carinatum, a stiff linea alba, and a sacral dimple. Her parents, both healthy, were first cousins, of each other. Thus the disease in the patient either may represent a fresh mutation of an autosomal dominant disease, or may be inherited as an autosomal recessive trait.

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Tsukahara, M., Kajii, T. Distal arthrogryposis type IIB in a girl: Autosomal recessive inheritance?. Jap J Human Genet 29, 447–451 (1984). https://doi.org/10.1007/BF01876502

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Keywords

  • Keratoconus
  • Short Neck
  • Ulnar Deviation
  • Autosomal Recessive Trait
  • Arthrogryposis Multiplex Congenita