Publication: Skeletal muscular changes in Pena-Shokeir Sequence
Skeletal muscular changes in Pena-Shokeir Sequence
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Reiser, P., Briner, J., & Schinzel, A. (1990). Skeletal muscular changes in Pena-Shokeir Sequence. Journal of Perinatal Medicine, 18(4), 267–274. https://doi.org/10.1515/jpme.1990.18.4.267
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In 1974, PENA and SHOKEIR first described alethal syndrome consisting of facial anomalies(flat and depressed nasal tip, micro- and retro-gnathia, malformed and low-set ears, hypertelo-rism), multiple ankyloses, pulmonary hypoplasiaand camptodactyly. Since then more than 60patients with the Pena-Shokeir sequence havebeen described.In addition to the lesions mentioned above, thefollowing signs were present in most cases: Still-birth or death during delivery or within a fewdays after birth, intrauterine growth retardation,cryptorchidism,
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Reiser, P., Briner, J., & Schinzel, A. (1990). Skeletal muscular changes in Pena-Shokeir Sequence. Journal of Perinatal Medicine, 18(4), 267–274. https://doi.org/10.1515/jpme.1990.18.4.267