A new case of the osteodysplastic primordial dwarfism type II
- 1 April 1987
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 26 (4) , 819-824
- https://doi.org/10.1002/ajmg.1320260408
Abstract
We describe a girl with extreme growth retardation of prenatal onset, short limbs, and somewhat unusual facial appearance. She represents the 6th patient with osteodysplastic primordial dwarfism type II. The distant consanguinity of the parents of this patient suggests possible autosomal recessive inheritance.Keywords
This publication has 5 references indexed in Scilit:
- An apparently new syndrome of microcephalic primordial dwarfism and cataractsAmerican Journal of Medical Genetics, 1986
- Osteodysplastic primordial dwarfism: Report of a further patient with manifestations similar to those seen in patients with types I and IIIAmerican Journal of Medical Genetics, 1985
- Studies of microcephalic primordial dwarfism I: Approach to a delineation of the seckel syndromeAmerican Journal of Medical Genetics, 1982
- Studies of microcephalic primordial dwarfism III: An intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles—osteodysplastic primordial dwarfism type IIIAmerican Journal of Medical Genetics, 1982
- Studies of microcephalic primordial dwarfism II: The osteodysplastic type II of primordial dwarfismAmerican Journal of Medical Genetics, 1982