L E T T E R S TO T H E E D I T O R S 455

(Dr J. Boue). Several ultra-sound scans failed to reveal any anomaly. The fetal movements were perceived by the mother and seemed correct on ultra-sonic examina- tion. The baby, L.H., was delivered by Cesa- rean section near the term (Jan. 1982). Birth weight was 3000 g, head circumference was 36.5 cm. Physical examination showed ex- actly the same anomalies as the first child with extended legs and no knee flexion, flexed elbows, hands and hips (Fig. lb), but a normal electroencephalogram. Multiple laboratory tests were performed as for the propositus. An intensive motor education was undertaken. On October 1983, the child was able to sit and to walk with some help and could pronounce several words.

So, we agree with Reed et al. who argue that “the etiologic relationship of the chro-

mosome anomaly is not clear in” this case. We think there is probably no relationship at all.

FranCoise Serville, M.D. Jose Dufau-Casanabe, M.D.

Daniel Fontan, M.D.

Reference

Reed, S. D., J. G. Hall, V. M. Riccardi, A. Ayl- sworth & C. Timmons (1985). Chromosomal abnormalities associated with congenital con- tractures (arthrogryposis). Clin. Genet. 27, 353-312.

Address: Unitt de Gtnetique MaternitP de Pellegrin 33076 Bordeaux Cidex France

Heterozygote expression in Grebe Chondrodysplasia

Received 20 February, accepted for publication I March 1986

Sirs. In a recent paper (Kumar et al. 1984)

we described an ancestral case of Grebe Chondrodysplasia, a disorder inherited as an autosomal recessive trait. Descendants of this individual have mild skeletal abnor- malities of the hands segregating over three generations as an autosomal dominant trait. We described the familial brachydactyly as a bone dysplasia unrelated to Grebe Chon- drodysplasia. Recently, Feng Bo et al. (1985) have described a highly inbred Miao Nationality Kindred carrying the gene for Grebe Chondrodysplasia. In this Chinese consanguineous family, the two fathers of the two living probands are sibs and the two mothers of the probands are also sibs. The paternal grandmother and maternal

grandfather were half-sibs with the same father but different mothers who were cou- sins. The two families had a total of thirteen progeny of whom six were affected with two still living.

Chen Renbiao (personal communication) has translated their discussion on hetero- zygous expression in this family and this data is compared with other reported cases in Table 1.

Chen Renbiao comments that their fam- ily suggests that heterozygotes may have mild skeletal anomalies of the hands and feet with different sites and severity. We con- cur with this opinion and suggest that the minor skeletal aberrations observed in de- scendants of our case of Grebe Chondrody- splasia, an Autosomal Recessive condition,

456 L E T T E R S T O T H E E D I T O R S

Table 1

Comparison of heterozygous expression of the gene for Grebe Chondrodysplasia reported in a Chinese family with other cases reported in the literature

Author and case Metacarpals Phalanges Other

Quelco-Salgado (1964

Garcia-Castro (1975) Father of affected Kumar et al. (1984) Grandson of affected Feng 60 et al. (1985) Mother of affected (Vl Mother's sib with affected child (V1.15) V1.28 Halfsib to V1.15

, 1968)

Clinodactyly terminal joint, 5th finger

2nd. 5th finger Short 1st Short middle

Short 3, 4, 5

Short 3, 4, 5

Short 4, 5

.I) Short middle, 2nd. 5th finger Short middle 5th finger

"mild expression" no details.

Left foot, postaxial polydactyly.

Right foot, postaxial polydactyly. Double hallux, fusion toes 1 + 2

may be the result of heterozygous ex- pression of this gene.

Diana Curtis

References

Feng Bo, Chen Renbiao, Luo Jianguo, Chen Ruigan & Zheng Yingming (1985). A kindred of Miao Nationality affected with Grebe- Quelco-Salgado Achondrogenesis. Acta Genet. Sinica 12, 378-386.

Garcia-Castro, J . M. & Perez-Comas (1975). Non-lethal achondrogenesis (Grebe-Quelco-

Salgado type) in two Puerto Rican sibships. J. Paediatr. 87, 948-952.

Kumar, D., D. Curtis & C. E. Blank (1984). Grebe Chondrodysplasia and brachydactyly in a fam- ily. Clin. Genet. 25, 68-72.

Quelco-Salgado, A. (1964). A new type of dwar- fism with various bone aplasias and hypo- plasias of the extremities. Acra Genet. (Basel)

Quelco-Salgado, A. (1968). A rare genetic syn-

Address: The Centre for Human Genetics 11 7 Manchester Road Sheffield SIO 5DN England

14, 63-66.

drome. Lancet i, 1430.