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Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait.
East Mediterr Health J. 2009 Mar-Apr; 15(2):345-52.EM

Abstract

We studied 21 patients with Sanjad-Sakati syndrome (SSS) from 16 families. Parental consanguinity was recorded in 2 families (12.5%). All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism. Medullary stenosis was detected in 2 patients. Cytogenetic and fluorescent in situ hybridization studies were normal. All affected persons had homozygous deletion of 12 bp (155-166del) in exon 3 of the TBCE gene. All of the parents were heterozygous carriers of this mutation. The high frequency of SSS and low frequency of consanguineous marriages in this study may reflect a high rate of heterozygous carriers.

Authors+Show Affiliations

Kuwait Medical Genetic Centre, Adan Hospital, Ministry of Health, Kuwait. naguibkk@yahoo.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article

Language

eng

PubMed ID

19554981

Citation

Naguib, K K., et al. "Sanjad-Sakati syndrome/Kenny-Caffey Syndrome Type 1: a Study of 21 Cases in Kuwait." Eastern Mediterranean Health Journal = La Revue De Sante De La Mediterranee Orientale = al-Majallah Al-sihhiyah Li-sharq Al-mutawassit, vol. 15, no. 2, 2009, pp. 345-52.
Naguib KK, Gouda SA, Elshafey A, et al. Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait. East Mediterr Health J. 2009;15(2):345-52.
Naguib, K. K., Gouda, S. A., Elshafey, A., Mohammed, F., Bastaki, L., Azab, A. S., & Alawadi, S. A. (2009). Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait. Eastern Mediterranean Health Journal = La Revue De Sante De La Mediterranee Orientale = al-Majallah Al-sihhiyah Li-sharq Al-mutawassit, 15(2), 345-52.
Naguib KK, et al. Sanjad-Sakati syndrome/Kenny-Caffey Syndrome Type 1: a Study of 21 Cases in Kuwait. East Mediterr Health J. 2009 Mar-Apr;15(2):345-52. PubMed PMID: 19554981.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait. AU - Naguib,K K, AU - Gouda,S A, AU - Elshafey,A, AU - Mohammed,F, AU - Bastaki,L, AU - Azab,A S, AU - Alawadi,S A, PY - 2009/6/27/entrez PY - 2009/6/27/pubmed PY - 2009/8/8/medline SP - 345 EP - 52 JF - Eastern Mediterranean health journal = La revue de sante de la Mediterranee orientale = al-Majallah al-sihhiyah li-sharq al-mutawassit JO - East. Mediterr. Health J. VL - 15 IS - 2 N2 - We studied 21 patients with Sanjad-Sakati syndrome (SSS) from 16 families. Parental consanguinity was recorded in 2 families (12.5%). All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism. Medullary stenosis was detected in 2 patients. Cytogenetic and fluorescent in situ hybridization studies were normal. All affected persons had homozygous deletion of 12 bp (155-166del) in exon 3 of the TBCE gene. All of the parents were heterozygous carriers of this mutation. The high frequency of SSS and low frequency of consanguineous marriages in this study may reflect a high rate of heterozygous carriers. SN - 1020-3397 UR - https://www.unboundmedicine.com/medline/citation/19554981/Sanjad_Sakati_syndrome/Kenny_Caffey_syndrome_type_1:_a_study_of_21_cases_in_Kuwait_ L2 - http://applications.emro.who.int/emhj/1502/15_2_2009_0345_0352.pdf DB - PRIME DP - Unbound Medicine ER -