Pedigree analysis in this kindred is compatible with an autosomal dominant inheritance. The parents and three other family members have clinical and radiological features of dyschondrosteosis. The two propositi, a boy and a girl, have mesomelic dwarfism and hypoplasia of the mandible, ulna, and fibula. It is our interpretation that mesomelic dwarfism is the clinical manifestation of the homozygous state for dyschondrosteosis. Mesomelic dwarfism is character¬ ized by short stature caused primarily by reductions in middle segments of the extremities. There are varying skeletal abnormalities as¬ sociated with it, some of which were reviewed by Bailey.1 Langer2 de¬ scribed a type of mesomelic dwarfism with hypoplasia of the mandible, ulna, and fibula. We would select his description as prototype for the chil¬ dren discussed here and would refer to this type of mesomelic dwarfism as the Langer type.Dyschondrosteosis, on the other hand, is a term applied to individ¬ uals who have relatively attenuated

No abstract

This paper describes 3 infants with a severe, generalized chondrodysplasia with short limbs, shortness of stature, relative micrognathia and neonatal respiratory distress in all cases, cleft palate in two and dislocation of lenses in one. They died at 7 and 10 weeks and at 17 months respectively. No autopsy was performed on any of the 3 patients. Roentgenological manifestations include short, broad tubular bones with metaphyseal widening, bowing of leg, thigh and forearm bones, neonatal accelerated carpal bone maturation, short, broad pelvis with wide, flared iliac wings, many gross vertebral abnormalities including most prominently coronal clefts of almost any vertebral body, and short ribs with flared anterior ends. Roentgenographically the condition has some similarities with Kniest disease, or more correctly, the Kniest chondrodysplasia. However, we think that the clinical and roentgenological manifestations are sufficiently unique to permit delineation of the condition of our 3 patients as a "new" entity different from the Kniest chondrodysplasia. Similar cases have been described by Rolland et al. from France and by Dinno et al. from the U.S.A. The later case and our 3 patients were sporadic cases, but the former had a probably affected sibling, suggesting that this disorder is an autosomal recessive trait.

In an 11‐year‐old girl with multiple congenital abnormalities and mental retardation, an extra, small, metacentric chromosome was identified by banding methods as a deleted chromosome No. 17. This represents the first reported case of partial trisomy 17.

Two cases are reported of familial partial trisomy 6q syndrome due to segregation of ins(5;6)(q33;q15q27) in three generations. The common clinical features include growth and mental retardation, feeding difficulty during infancy, microcephaly with downward slanting palpebral fissures, flattened nasal bridge with anteverted and flared nares, long philtrum, high arched palate, partially opened and protruding mouth with receding chin, deep transverse creases of the ears, three creases on the 4th fingers, clinodactyly of the 5th fingers with a single crease, and other dermatoglyphic findings. These characteristic features of two patients appear to make partial trisomy 6q a clinically recognizable syndrome.