As rare as Hen's teeth: Tetra-amelia syndrome : JCN April is
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Introduction
Congenital limb defects have a birth prevalence of 0.55/1000. Amelia, the complete absence of one limb, has a birth prevalence of 0.01/1000 births, in which 50% are syndromic. Tetra-amelia, the complete absence of all four limbs (greek word “tetra” means four and “amelia” means absence of limbs), is even rarer (incidence is of 1.5–4/100,000 births) frequently inherited in an autosomal recessive pattern which occurs due to interruption of development of limb buds between 24 and 36th days of fertilization. It is usually described as multiple congenital anomaly syndromes associated with cyclic vomiting syndrome, central nervous system (CNS), gastrointestinal tract, urogenital, craniofacial, or respiratory system malformation. Because newborns with tetra-amelia syndrome have such serious medical problems, most are stillborn or die shortly after birth. The clinical delineation of the different entities associated with tetra-amelia is complex and the molecular findings are limited.

Tetra-amelia syndrome (TAS) has been reported in only a few families worldwide. We describe here a case of live born baby with TAS because of its rarity and its rare associations.


Case Report
A live neonate, who was few hours old, weighing 2 kg, with the absence of all four limbs, abandoned by parents, was brought into pediatric emergency room by a social worker. Maternal antenatal history was not available in this case.

Examinations revealed complete absence of all four limbs with bilateral cleft lip and palate, facial dysmorphism, corneal clouding, proptosis, low set ears, short neck exstrophy of bladder, and cloacae with absence of external genitalia. Sex of baby could not be determined.....

http://www.jcnonweb.com/article.asp?issn=2249-4847;year=2017;volume=6;issue=2;spage=103;epage=105;aulast=Gupta
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