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.
  1. Severe growth deficiency (I:36 cm)
  2. Macrocephaly and thoracic hypoplasia
  3. Rhizomelic micromelic limbs and brachydactyly
  4. Cloverleaf skull and Midfacial hypoplasia
  1. Telephone receiver shaped femur bones
  2. Very short limb born and with irregular flaring of metaphysis
  3. Platyspondyly
  4. 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:
  1. TD1 : Extreme Rhizomelic bowed long bones, narrow thorax and absent cloverleaf skull
  2. 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.
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