Dr. Jitendra J*, Talekar**, Dr. Mrs. S. V. Savskar***, Dr. P. V. Kumavat****
Department of Paediatrics, Dr. V. M. Government Medical College, Solapur.*, Department of Paediatrics, Dr. V. M. Government Medical College, Solapur.**, Department of Paediatrics, Dr. V. M. Government Medical College, Solapur.***, Department of Paediatrics, Dr. V. M. Government Medical College, Solapur.****
|"Thanatophoric Dysplasia - Death Bringing"
Introduction: It is a lethal congenital short-limbed chondrodysplasia described by Maroteaux in 1967. Its incidence is 2.7 in 11 lakh live births.
It is an autosomal dominant disorder mutation in FGFR-3 gene.
Abstracts: 4th gravida (26 years) female, with 32 weeks pregnancy and H/o Polyhydramnios delivered by breech presentation a fresh still birth in Shri Chhatrapati Shivaji Maharaj Sarvopchar, Rugnalay, Solapur, having following features.
- Severe growth deficiency (I:36 cm)
- Macrocephaly and thoracic hypoplasia
- Rhizomelic micromelic limbs and brachydactyly
- Cloverleaf skull and Midfacial hypoplasia
- Telephone receiver shaped femur bones
- Very short limb born and with irregular flaring of metaphysis
- Short ribs with flared ends
with these impressions kept as "Thanatophoric Dysplasia".
Discussion: This is autosomal dominant disorder with unknown etiology with M:F-2:1.
There are 2 subtypes:
- TD1 : Extreme Rhizomelic bowed long bones, narrow thorax and absent cloverleaf skull
- TD2 : Short straight long bones with cloverleaf skull
Associated anomalies include horseshoe kidney, Hydronephrosis, ASD and imperforated anus.
Differential diagnosis: Chondroectodermal Dysplasia, short rib polydactyly syndrome, Asphyxiating Thoracic dystrophy.
Prenatal diagnosis is possible with USG. Chromosomal analysis molecular testing for mutation in FGFR-3 Gene.
Treatment: Only termination of pregnancy if diagnosed prenatally. Genetic counseling has prime importance.
Prognosis: Invariably lethal in first 48 hours due to pulmonary hypoplasia.
|How to Cite URL :|
|J J D, Talekar, Savskar V S M D, Kumavat V P D.. Available From : http://www.pediatriconcall.com/fordoctor/ Conference_abstracts/report.aspx?reportid=278|