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New autosomal recessive syndrome with short stature and facio-auriculo-thoracic malformations.
. 2004 Aug 01; 128A(4):414-7.

Abstract

Two sibs, a boy and a girl, from a Lebanese consanguineous family presented with short stature, microcephaly, ptosis, small, dysplastic, low set ears, short neck, and pectum excavatum and carinatum. In addition, the boy had a high arched palate, a cardiac malformation, and at the X-rays an absence of fusion of the posterior hemi-arches of C7 and a fusion between L5 and S1 with a sagittal-cleft vertebral body of L5, while his sister had a cleft lip/palate and at the X-rays an abnormal odontoid peg and a malformation of the articular facets between C1 and C2, and bilateral cervical ribs. Other laboratory and radiological investigations were normal. Sequencing of PTPN11 exons 2, 3, 4, 7, 8, 12, and 13 did not reveal any variations. Two other sibs presented almost the same dysmorphic features; one girl died at age 6(1/4) years after an acute episode of renal insufficiency, and one boy died at 40 days of age. Differential diagnosis is discussed and the possibility of the report of a new autosomal recessive syndrome with variable expressivity is raised.

Authors+Show Affiliations

Unité de Génétique Médicale, Laboratoire de Biologie Moléculaire et Cytogénétique, Faculté de Médecine, Université Saint-Joseph, Beirut, Lebanon. megarban@dm.net.lbNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

15264289

Citation

Mégarbané, André, et al. "New Autosomal Recessive Syndrome With Short Stature and Facio-auriculo-thoracic Malformations." American Journal of Medical Genetics. Part A, vol. 128A, no. 4, 2004, pp. 414-7.
Mégarbané A, Daou L, Mégarbané H, et al. New autosomal recessive syndrome with short stature and facio-auriculo-thoracic malformations. Am J Med Genet A. 2004;128A(4):414-7.
Mégarbané, A., Daou, L., Mégarbané, H., Cave, H., Chouery, E., & Verloes, A. (2004). New autosomal recessive syndrome with short stature and facio-auriculo-thoracic malformations. American Journal of Medical Genetics. Part A, 128A(4), 414-7.
Mégarbané A, et al. New Autosomal Recessive Syndrome With Short Stature and Facio-auriculo-thoracic Malformations. Am J Med Genet A. 2004 Aug 1;128A(4):414-7. PubMed PMID: 15264289.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - New autosomal recessive syndrome with short stature and facio-auriculo-thoracic malformations. AU - Mégarbané,André, AU - Daou,Linda, AU - Mégarbané,Hala, AU - Cave,Hélène, AU - Chouery,Eliane, AU - Verloes,Alain, PY - 2004/7/21/pubmed PY - 2005/2/19/medline PY - 2004/7/21/entrez SP - 414 EP - 7 JF - American journal of medical genetics. Part A JO - Am. J. Med. Genet. A VL - 128A IS - 4 N2 - Two sibs, a boy and a girl, from a Lebanese consanguineous family presented with short stature, microcephaly, ptosis, small, dysplastic, low set ears, short neck, and pectum excavatum and carinatum. In addition, the boy had a high arched palate, a cardiac malformation, and at the X-rays an absence of fusion of the posterior hemi-arches of C7 and a fusion between L5 and S1 with a sagittal-cleft vertebral body of L5, while his sister had a cleft lip/palate and at the X-rays an abnormal odontoid peg and a malformation of the articular facets between C1 and C2, and bilateral cervical ribs. Other laboratory and radiological investigations were normal. Sequencing of PTPN11 exons 2, 3, 4, 7, 8, 12, and 13 did not reveal any variations. Two other sibs presented almost the same dysmorphic features; one girl died at age 6(1/4) years after an acute episode of renal insufficiency, and one boy died at 40 days of age. Differential diagnosis is discussed and the possibility of the report of a new autosomal recessive syndrome with variable expressivity is raised. SN - 1552-4825 UR - https://www.unboundmedicine.com/medline/citation/15264289/New_autosomal_recessive_syndrome_with_short_stature_and_facio_auriculo_thoracic_malformations_ L2 - https://doi.org/10.1002/ajmg.a.30239 DB - PRIME DP - Unbound Medicine ER -