Literature DB >> 7538982

The new syndrome of congenital hypoparathyroidism associated with dysmorphism, growth retardation, and developmental delay--a report of six patients.

E Hershkovitz1, S Shalitin, J Levy, E Leiberman, A Weinshtock, I Varsano, R Gorodischer.   

Abstract

We describe six children of Arab origin with a syndrome of congenital hypoparathyroidism, severe growth retardation, developmental delay, and dysmorphism. The most prominent dysmorphic features were microcephaly, facial and dental anomalies, and small hands and feet. Bone age was markedly retarded. Neither immunological nor chromosomal abnormalities were found. Insulin-like growth factor-1 serum levels, measured in two patients, were abnormally low.

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Year:  1995        PMID: 7538982

Source DB:  PubMed          Journal:  Isr J Med Sci        ISSN: 0021-2180


  6 in total

1.  Case report: Management of severe posterior open bite due to primary failure of eruption.

Authors:  J Mc Cafferty; E Al Awadi; A C O'Connell
Journal:  Eur Arch Paediatr Dent       Date:  2010-06

2.  Genotypic/phenotypic heterogeneity of Kenny-Caffey syndrome.

Authors:  M A Sabry; M Zaki; A Shaltout
Journal:  J Med Genet       Date:  1998-12       Impact factor: 6.318

3.  A Staghorn Calcium Phosphate Stone in a Child With Sanjad-Sakati Syndrome: An Iatrogenic Manifestation?

Authors:  Mohammad A Alomar; Mohammad A Alghafees; Raouf M Seyam; Abdulaziz S Aljurayyad; Reema S Aldhalaan; Khalid M Alshuwaier; Yasser M Alkharashi; Abdulrahman L Albassam
Journal:  Cureus       Date:  2022-03-10

4.  Status epilepticus in a child with Sanjad Sakati syndrome.

Authors:  Rajniti Prasad; Chhaya Kumari; Om Prakash Mishra; Utpal Kant Singh
Journal:  BMJ Case Rep       Date:  2013-02-01

5.  Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43.

Authors:  R Parvari; E Hershkovitz; A Kanis; R Gorodischer; S Shalitin; V C Sheffield; R Carmi
Journal:  Am J Hum Genet       Date:  1998-07       Impact factor: 11.025

6.  Dental Findings in Patients With Non-surgical Hypoparathyroidism and Pseudohypoparathyroidism: A Systematic Review.

Authors:  Jane Hejlesen; Line Underbjerg; Hans Gjørup; Agnes Bloch-Zupan; Tanja Sikjaer; Lars Rejnmark; Dorte Haubek
Journal:  Front Physiol       Date:  2018-06-19       Impact factor: 4.566

  6 in total

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