Niger J Paediatr 2020; 47 (3):277 – 279 CASE REPORT Daniyan OW CC –BY Thanatophoric dysplasia type 1 as Ezeanosike OB Ogbonna-Nwosu C seen in a tertiary institution in Iloduba UC South-East Nigeria: A case report

DOI:http://dx.doi.org/10.4314/njp.v47i3.14 Accepted: 9th April 2019 Abstract: Thanatophoric dyspla- ered to a 35year old woman. The sia is a lethal form of skeletal dys- upper and lower limbs were short Daniyan OW ( ) plasia seen in neonates. The word with excessive skin folds. A case Ezeanosike OB ‘thanatophoric’ is derived from of female neonate with thanato- Ogbonna-Nwosu C, Iloduba UC the Greek word thanatophorus phoric dysplasia is hereby reported Department of Paediatrics, meaning death bringing. Thanato- to raise awareness of this condition Alex-Ekwueme Federal University phoric dysplasia results from mu- and to describe the features of Teaching Hospital, Abakaliki tations within the Fibroblast thanatophoric dysplasia seen in Email: [email protected] 3 this patient . (FGFR3) gene which is located on chromosome 4p16.3. A female Key words: Thanatophoric Dys- neonate with dysmorphic features plasia (TD), Fibroblast Growth such as , frontal Factor Receptor 3 Gene (FGFR3), bossing, periorbital swelling and dysmorphic, macrocephaly depressed nasal bridge was deliv- Introduction At delivery APGAR score was 31, 55and 610 Resuscita- tion with intermittent positive pressure ventilation Thanatophoric dysplasia (TD) is a lethal form of skeletal (IPPV) with bag and mask was done at birth. She had dysplasia seen in neonates. The word ‘thanatophoric is respiratory distress and was admitted into to the new- derived from the Greek word thanatophorus meaning born intensive care unit (NICU) where she was com- death bringing as described by Maroteauxet menced on intranasal oxygen. The baby had dysmorphic al.1Thanatophoric dysplasia results from mutations features such as macrocephaly with head circumference within the Fibroblast Growth Factor Receptor 3 of 41cm( >97th percentile), frontal bossing, periorbital (FGFR3) gene which is located on chromosome swelling and depressed nasal bridge. The upper and 4p16.3.2 The condition is characterized by limb shorten- lower limbs were short with excessive skin folds . The ing, macrocephaly, folds of redundant skin, narrow chest chest appeared small with protuberant abdomen. The and pulmonary hypoplasia.3,4Thanatophoric dysplasia weight was 3.25kg with a length of 38cm. diagnosis of has two major subtypes TD I and TD 2. Type 1 has a thanatophoric dysplasia type 1 was made. The baby died curved limb while type 2 has straight limb with clover- 3 hours after delivery. leaf shaped head. A case of female neonate with thana- tophoric dysplasia is hereby reported to raise awareness Newborn with features suggestive of thanatophoric dysplasia of this condition and to describe the features of thanato- type 1 phoric dysplasia seen in this patient . . Case report

A case of a female neonate with dysmorphic features who was delivered at the Alex Ekwueme Federal Uni- versity Teaching Hospital Abakaliki in May 2019 to a booked 35 year-old para 9 woman at a gestational age of 40 weeks through emergency caesarean section due to prolonged labour. Mother was not regular with antenatal visit and had taken herbal mixtures consisting of leaves mixed with alcohol at various times during the period of pregnancy. She had no history of hypertension or diabe- tes and no family history of congenital abnormalities. Had only one prenatal scan done during early trimester, which showed no abnormality. Father was a 60 year old man. 278 Discussion narrow chest and hypoplastic commonly seen in TD.18 Thanatophoric dysplasia should be differentiated Thanatophoric dysplasia is a lethal skeletal dysplasia from other causes of skeletal dysplasia like achondro- and is classified in group 1 of the FGFR3 chondrodys- plasia, , , cam- plasia group on molecular bases.5 It is inherited in an pomelic dysplasia. is a non lethal form autosomal dominant fashion. of chondrodysplasia characterized by big head, short The prevalence of thanatophoric dysplasia has been esti- limb that is marked in the proximal segment and fingers mated to be 1.1 per 100,000 births in Japan6 and a preva- that assume trident position.19 lence of 0.21 to 0.30 per 10,000 live births in US.7 There TD can be diagnosed based on clinical features or use of are no available data on the prevalence of thanatophoric radiographic studies either at the prenatal period by use dysplasia in Nigeria, this may be due to under reporting. of ultrasonography or in the immediate newborn period. Few case of TD has been reported in Nigeria, Joel- On the index case the parents refused further investiga- Medewase et al8and Komolafeetal9 reported cases of TD tion on the baby. The mother had only one prenatal ul- in South-West Nigeria. trasound scan. A late scan in pregnancy may have de- tected the clinical condition and this would have pre- FGFR3 is a negative regulator of bone growth and its pared the parents for the birth of the baby. mutation is responsible for TD. The mutation results in An autopsy could also be done to determine the severity activation of FGFR3 tyrosine kinase which sends nega- of the disease condition in babies with TD, autopsy was tive signals to the chondrocytes which result in inhibi- not done in this case because the parents did not give tion of cell division, stimulation of cell maturation and consent. differentiation giving rise to abnormal bone develop- ment.10 An R248C mutation has been found in the FGFR3 gene.11 Also missense mutation of Y373c , S371C and S249C has been reported in some cases of Conclusion TD.12 This is a case of a female neonate with clinical features Similar features seen in this neonate like shortening of of TD 1. The report underscores the importance of ultra- the limbs, macrocephaly, short neck, depressed nasal sonography in pregnancy for early detection of fetal bridge, narrow with distended abdomen has been anomalies to enable appropriate counseling of the par- reported by other authors.13,14The long bones in TD 1 ents, preparation for birth of the baby and early interven- are curved and appears like telephone receiver on radio- tion where indicated. graphs.15Thanatophoric dysplasia type 2 is character- ized by clover leaf shaped skull due topremature closure of coronal and lambdoid suturesand the long bones are Conflict of Interest: None not bent or curved. 16,17 Funding: None Most cases of TD are delivered still birth and those born alive rarely survive due to pulmonary insufficiency from

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