American Journal of Medical Genetics 40230-233 (1991)
Short Rib Syndrome-Beemer Type in Sibs Raoul C.M. Hennekam Clinical Genetics Center Utrecht, Utrecht, The Netherlands
The short rib (polydactyly)syndrome Beemer type is a rare lethal osteochondrodysplasia characterized clinically by short limbs, median cleft upper lip and palate, narrow thorax, and protuberant abdomen, and radiologically by short ribs, short and bowed long bones, and mild platyspondyly. Two affected female sibs are described, one having a preaxial polydactyly of the feet. The differentiation with the short rib syndrome Majewski type relies mainly on the radiological appearance of the tibia. Molecular biology may eventually prove whether the 2 conditions are truly separate entities or not.
KEY WORDS: osteochondrodysplasia, short rib syndromes, Beemer type, Majewski type, polydactyly ~
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[19831. Probably the patients described by Black et al. [1982] represent the same condition.To date 11patients have been described [Black et al., 1982; Beemer et al., 1983; Passarge, 1983; Beemer, 1987;Winter, 1988;Garcia et al., 1988; Chen et al., 1989;Dominick, 19901. Here we present 2 sibs with SRS Beemer type, one with and one without polydactyly.
CLINICAL REPORTS Case 1 Case 1was the second-born child of healthy, nonconsanguineous parents (father 29 and mother 27 years old, respectively). Their first child, a girl, was normal. At 29 weeks of gestation hydramnios was detected clinically. Ultrasound examination showed a growth-retarded fetus with hydrops and ascites, eventually leading to induction of delivery at 30 weeks of gestation. The child was stillborn. Postmortem examination showed a grossly abnormal female child (Fig. 11, weighing 1375 g (50th centile), and with a length of 33 cm (
Short Rib Syndrome-Beemer Type in Sibs Raoul C.M. Hennekam Clinical Genetics Center Utrecht, Utrecht, The Netherlands
The short rib (polydactyly)syndrome Beemer type is a rare lethal osteochondrodysplasia characterized clinically by short limbs, median cleft upper lip and palate, narrow thorax, and protuberant abdomen, and radiologically by short ribs, short and bowed long bones, and mild platyspondyly. Two affected female sibs are described, one having a preaxial polydactyly of the feet. The differentiation with the short rib syndrome Majewski type relies mainly on the radiological appearance of the tibia. Molecular biology may eventually prove whether the 2 conditions are truly separate entities or not.
KEY WORDS: osteochondrodysplasia, short rib syndromes, Beemer type, Majewski type, polydactyly ~
~~
[19831. Probably the patients described by Black et al. [1982] represent the same condition.To date 11patients have been described [Black et al., 1982; Beemer et al., 1983; Passarge, 1983; Beemer, 1987;Winter, 1988;Garcia et al., 1988; Chen et al., 1989;Dominick, 19901. Here we present 2 sibs with SRS Beemer type, one with and one without polydactyly.
CLINICAL REPORTS Case 1 Case 1was the second-born child of healthy, nonconsanguineous parents (father 29 and mother 27 years old, respectively). Their first child, a girl, was normal. At 29 weeks of gestation hydramnios was detected clinically. Ultrasound examination showed a growth-retarded fetus with hydrops and ascites, eventually leading to induction of delivery at 30 weeks of gestation. The child was stillborn. Postmortem examination showed a grossly abnormal female child (Fig. 11, weighing 1375 g (50th centile), and with a length of 33 cm (
