Two unrelated families are presented, each with 2 affected offspring with bifid femur, absent tibia, and ectrodactyly. The healthy parents are consanguineous. It is postulated that this combination of malformations is causally heterogenous with both autosomal dominant and autosomal recessive modes of inheritance; hence, it is established as a developmental field defect.

No abstract

Short-limb dwarfism is of heterogeneous origin and has various clinical manifestations. This communication describes a previously apparently unreported type of short-limb dwarfism in 3 affected sibs. Characteristics of this syndrome are bilateral absence of fibulae and severe abnormalities of all digits.

A highly inbred kinship is described, in which 19 individuals were afflicted with bilateral profound microphthalmia without associated anomalies and with normal intelligence. Autosomal recessive inheritance is demonstrated. This kindred is instructive for genetic counseling since the affected individuals always have bilateral microphthalmia in the absence of other affected organ systems.

We report on 2 sibs with a previously unreported type of mesomelia of the upper limbs due to ulnar hypoplasia. Prenatal diagnosis was made by ultrasound during one pregnancy and an affected fetus was confirmed. This family documents a previously unreported autosomal recessive syndrome.