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A familial tetraphocomelia syndrome involving limb deformities, cleft lip, cleft palate, and associated anomalies —A new syndrome

✍ Scribed by Kiran Kucheria; S. K. Bhargava; R. Bamezai; P. Bhutani

Publisher
Springer
Year
1976
Tongue
English
Weight
572 KB
Volume
33
Category
Article
ISSN
0340-6717

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✦ Synopsis

This paper reports a rare malformation syndrome which is observed in two sibs (brother and sister) of a family. It consists of nearly symmetric reductive defects of the limbs, flexon contractures of various joints, cleft lip and cleft palate, multiple minor abnormalities including capillary hemangioma of the forehead, hypoplastic cartilages of ears and nose, micrognathia, intrauterine growth retardation, and possibly mental retardation. Chromosomes of both parents and propositi are normal. Genetic data suggest autosomal recessive inheritance.

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✍ Ben-Amitai, Dan ;Rachmel, Avinoam ;Levy, Yael ;Sivan, Yakov ;Nitzan, Menachem ;S 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 389 KB 👁 2 views

We report on a 4-month-old girl with congenital hypodipsic hypernatremia resulting from decreased sensitivity of the hypothalamic osmoreceptors with increased tonicity in association with hyperlipemia and cleft lip and cleft palate. We postulate that the link among these various derangements is hypo