The SC phocomelia syndrome: report of two cases with cytogenetic abnormality

American Journal of Medical Genetics
Q H QaziS J Choi

Abstract

We report two sibs with the SC phocomelia syndrome with typical facial appearance and bilateral absence or extreme hypoplasia of the fibula, radius, and thumb. One sib had bilateral humero-ulnar and femoro-tibial synostosis (absence of the elbow and knee joints). Application of the nosologic criteria of Herrmann and Opitz showed that there was no significant intrafamilial variation in phenotype. Chromosome analyses in both patients showed heterochromatic puffing and centromere separation involving many chromosomes, an observation that has previously been reported in patients with SC phocomelia and Roberts syndromes. More important, this finding will have significance in prenatal detection of a certain proportion of cases with these syndromes without resorting to the use of radiographic examinations.

References

Jun 1, 1977·European Journal of Pediatrics·J Herrmann, J M Opitz

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Citations

Jan 1, 1982·Human Genetics·P LeonardL Skardoon
Jul 1, 1989·Indian Journal of Pediatrics·Q H Qazi
Oct 9, 2002·Journal of Pediatric Orthopedics. Part B·James D McIntyre, Michael K D Benson
Jan 28, 2003·American Journal of Medical Genetics. Part a·A W Bates
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Mar 1, 1989·American Journal of Medical Genetics·D B RobinsE H Zackai
Sep 1, 1990·American Journal of Medical Genetics·M Holmes-SiedleM Crouchman
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Sep 6, 2012·The Korean Journal of Parasitology·Sang-Eun LeeWon-Ja Lee
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Jun 1, 1992·Developmental Medicine and Child Neurology·K R HoldenP D Sponseller
Aug 25, 2020·The Journal of Craniofacial Surgery·Geiza MáximoCassio Eduardo Raposo-Amaral

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