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Familial lethal skeletal dysplasia with cloverleaf skull and multiple anomalies of brain, eye, face and heart: a new autosomal recessive multiple congenital anomalies syndrome.
Clin Genet. 2002 May; 61(5):369-74.CG

Abstract

We report on a 'new' lethal familial short-limb bone dysplasia associated with multiple anomalies in three sibs born to Arabic-Muslim consanguineous healthy parents. Clinical abnormalities included short limbs and short hands, cloverleaf skull, frontal bossing, wide anterior fontanel, hypertelorism, bilateral microphthalmia, cataract, low-set ears, narrow chest, ambiguous genitalia, cardiac ventricular septal defect (VSD) and agenesis of the corpus callosum. Radiological abnormalities included cloverleaf skull, hypoplastic clavicles and scapulae, thin, wavy cupped ribs, flat vertebral bodies with coronal clefting and several unossified vertebral pedicles and hypo-ossification of the pubic bone. The main changes noted in the long bones consisted of short-bowed long bones with abnormal metaphyses and unossified epiphyses. Chondro-osseous morphology documented degenerating chondrocytes with disorganization of the hypertrophied cartilage and short disorganized columns of hypertrophied areas. An autosomal recessive mode of inheritance seems most likely.

Authors+Show Affiliations

The Genetics Institute, Meir Hospital, Sapir Medical Center, Kfar Saba, Israel. sharonyr@netvision.net.ilNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

12081722

Citation

Sharony, R, et al. "Familial Lethal Skeletal Dysplasia With Cloverleaf Skull and Multiple Anomalies of Brain, Eye, Face and Heart: a New Autosomal Recessive Multiple Congenital Anomalies Syndrome." Clinical Genetics, vol. 61, no. 5, 2002, pp. 369-74.
Sharony R, Kidron D, Amiel A, et al. Familial lethal skeletal dysplasia with cloverleaf skull and multiple anomalies of brain, eye, face and heart: a new autosomal recessive multiple congenital anomalies syndrome. Clin Genet. 2002;61(5):369-74.
Sharony, R., Kidron, D., Amiel, A., Fejgin, M., & Borochowitz, Z. U. (2002). Familial lethal skeletal dysplasia with cloverleaf skull and multiple anomalies of brain, eye, face and heart: a new autosomal recessive multiple congenital anomalies syndrome. Clinical Genetics, 61(5), 369-74.
Sharony R, et al. Familial Lethal Skeletal Dysplasia With Cloverleaf Skull and Multiple Anomalies of Brain, Eye, Face and Heart: a New Autosomal Recessive Multiple Congenital Anomalies Syndrome. Clin Genet. 2002;61(5):369-74. PubMed PMID: 12081722.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Familial lethal skeletal dysplasia with cloverleaf skull and multiple anomalies of brain, eye, face and heart: a new autosomal recessive multiple congenital anomalies syndrome. AU - Sharony,R, AU - Kidron,D, AU - Amiel,A, AU - Fejgin,M, AU - Borochowitz,Z U, PY - 2002/6/26/pubmed PY - 2002/9/25/medline PY - 2002/6/26/entrez SP - 369 EP - 74 JF - Clinical genetics JO - Clin. Genet. VL - 61 IS - 5 N2 - We report on a 'new' lethal familial short-limb bone dysplasia associated with multiple anomalies in three sibs born to Arabic-Muslim consanguineous healthy parents. Clinical abnormalities included short limbs and short hands, cloverleaf skull, frontal bossing, wide anterior fontanel, hypertelorism, bilateral microphthalmia, cataract, low-set ears, narrow chest, ambiguous genitalia, cardiac ventricular septal defect (VSD) and agenesis of the corpus callosum. Radiological abnormalities included cloverleaf skull, hypoplastic clavicles and scapulae, thin, wavy cupped ribs, flat vertebral bodies with coronal clefting and several unossified vertebral pedicles and hypo-ossification of the pubic bone. The main changes noted in the long bones consisted of short-bowed long bones with abnormal metaphyses and unossified epiphyses. Chondro-osseous morphology documented degenerating chondrocytes with disorganization of the hypertrophied cartilage and short disorganized columns of hypertrophied areas. An autosomal recessive mode of inheritance seems most likely. SN - 0009-9163 UR - https://wwww.unboundmedicine.com/medline/citation/12081722/Familial_lethal_skeletal_dysplasia_with_cloverleaf_skull_and_multiple_anomalies_of_brain_eye_face_and_heart:_a_new_autosomal_recessive_multiple_congenital_anomalies_syndrome_ L2 - https://onlinelibrary.wiley.com/resolve/openurl?genre=article&sid=nlm:pubmed&issn=0009-9163&date=2002&volume=61&issue=5&spage=369 DB - PRIME DP - Unbound Medicine ER -