Thanatophoric dysplasia type 1 as seen in a tertiary institution in South-East Nigeria: A case report

Daniyan, Olapeju Wunmi; Ezeanosike, Obumneme; Ogbonna-Nwosu, C.; Iloduba, U.C.

doi:10.4314/njp.v47i3.14

Cited by 3 publications

(4 citation statements)

References 8 publications

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“…This highlights the difficulty that may be associated with antenatal diagnosis. Several authors have, on the contrary, reported cases of TD correctly diagnosed in-utero with sonographic examination [ 11 , 12 ]. Skeletal dysplasias can be diagnosed in-utero with increasing accuracy as the pregnancy advances.…”

Section: Discussionmentioning

confidence: 99%

Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis

Audu

Gambo

Baduku

et al. 2022

Case Reports in Pediatrics

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Thanatophoric dysplasia (TD) is a rare but uniformly lethal inherited disorder of the skeletal system resulting from defects in the fibroblast growth factor receptor-3 gene on the short arm of chromosome ##4. It is characterised by pronounced shortening of the tubular bones resulting in significant short stature, macrocephaly, a funnel-shaped chest, protuberant abdomen, redundant skin in the limbs, and typical facies among others. The two clinical types of TD are differentiated by typical cranial and tubular bone configurations. Antenatal diagnosis is usually made in the last trimester and corroborated at birth. We present 2 cases of TD seen at Barau Dikko Teaching Hospital (BDTH) between January and August 2021 to highlight the potential difficulty with antenatal diagnosis, its diagnostic features, and associated early postnatal fatality. The antenatal diagnosis was missed in both cases in spite of repeated 2nd and 3rd-trimester sonographic examinations. Both babies presented with remarkable micromelic short stature with the telephone-handle appearance of the femoral bones characteristic of type 1 TD, developed progressive respiratory distress at birth, and died within 36 hours of life despite respiratory support with Bubble CPAP. These cases are discussed along with a review of existing relevant literature.

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Section: Discussionmentioning

confidence: 99%

Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis

Audu

Gambo

Baduku

et al. 2022

Case Reports in Pediatrics

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“…Type II TD is characterized by micromelia with straight femurs and the uniform presence of moderate and severe craniosynostosis with cloverleaf-like skull deformation due to premature closure of the coronal and lambda-like sutures [4,7,13,17,18,19,20].…”

Section: Introductionmentioning

confidence: 99%

“…The differential diagnosis of TD should include imperfect osteogenesis type II, characterized by fractures of long bones, and achondrogenesis, characterized by extreme hypomineralization but without the classic multiple skin folds [8,18,29]. The differential diagnosis also includes Ellis-Van Creveld syndrome (chondroectodermal dysplasia), asphyxial thoracic dysplasia, chondrodysplasia syndrome with polydactyly, severe hypophosphatasia, and homozygous achondroplasia [19,31].…”

Section: Introductionmentioning

confidence: 99%

Thanatophoric Dysplasia: Literature Review and Clinical Case in Monochoric Diamniotic Twins

Lastivka,

Babintseva,

Antsupova

et al. 2023

Neonatol. hìr. perinat. med.

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Thanatophoric dysplasia, TD (OMIM: 187600, 87601) belongs to the group of FGFR3 chondrodysplasias and is divided intotypes I and II. The incidence of TD is approximately 1:20,000-50,000 newborns. TD is usually caused by pathogenic variantsin the FGFR3 gene, which provides instructions for making a protein involved in the development and maintenance of bone andbrain tissue. Mutations in the gene result in excessive protein activity. TD is inherited as an autosomal dominant trait, althoughcases of autosomal recessive inheritance have been described.According to the radiologic changes of the bones and skull, there are 2 clinical types of TD: type I (TD1, MIM 187600) andtype II (TD2, MIM 187601) with some overlap between them. Type I TD is characterized by micromelia with curved femurs,marked platyspondylia with or without a cloverleaf skull. TD type II is characterized by micromelia with straight femurs andthe uniform presence of moderate to severe craniosynostosis with a leaf-shaped skull deformity due to premature closure of the coronal and lambdoid sutures..The diagnosis of TD is made syndromologically and/or radiologically and/or by detection of a heterozygous pathogenicFGFR3 variant identifi ed by molecular genetic testing.The article presents a rare clinical case of TD in monochorionic dizygotic twins with a fatal outcome. During prenatalultrasound examination at 26-27 and 35-36 weeks of gestation, signs of skeletal dysplasia were diagnosed in both fetuses against the background of pronounced polyhydramnios. It should be noted that the father of the children is over 60 years old.The diagnosis of both children was made syndromologically and radiologically based on the detection of phenotypic signs of TD(predominance of the skull over the face, short upper and lower limbs, altered shape of the chest, infl amed nasal bridge) and radiological signs of TD (short ribs, narrow chest, relative macrocephaly, micromelia of all limbs). Genetic testing for TD was not performed.The clinical case was published with the consent of the parents in accordance with the principles of bioethics.

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“…3 There are no prevalence reports from Nigeria probably because of nonreporting however there have been few case reports by Joel-Medewase et al, Komolafe et al and Daniyan et al in South-West and South-Eastern Nigeria respectively. [4][5][6] These infants are born with severe shortening of lower limbs, and underdeveloped lungs resulting in respiratory difficulty at birth or shortly after. Some cases have been reported to have died in utero while others died a few ABSTRACT Thanatophoric dysplasia is a rare congenital severe skeletal disorder previously considered lethal but some survivals beyond the neonatal period have been reported due to extensive medical interventions.…”

Section: Introductionmentioning

confidence: 99%

Thanatophoric dysplasia: a case report at Federal Medical Centre Yenagoa, Bayelsa state Nigeria

Onotume¹,

Idholo²,

Tunde-Oremodu³

et al. 2022

Int J Contemp Pediatr

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Thanatophoric dysplasia is a rare congenital severe skeletal disorder previously considered lethal but some survivals beyond the neonatal period have been reported due to extensive medical interventions. There have been a few studies on thanatophoric dysplasia in Africa and specifically in Nigeria hence this case report of an 8-day old female who was born with clinical features that were consistent with thanatophoric dysplasia creating awareness in this region. An eight-day old female term neonate who was seen in the special care baby unit with respiratory distress and limb abnormalities from birth. Two obstetric ultrasound scans had revealed a fetus with severe limb deformity. At presentation, she was in respiratory distress, with dysmorphic features, small chest wall with chest hypertelorism. The limbs were short having marks of amniotic bands with lymphoedema affecting both lower limbs. There were no palmar creases. Skeletal survey done revealed marked hypoplasia of the chest cavity, and widening of both proximal and distal epiphyses of all long bones showing telephone receiving appearance. Echocardiography and abdominal ultrasound scans were normal. It was documented that thanatophoric dysplasia was inherited in an autosomal dominant fashion however sporadic mutations do occur as seen in this patient who had no family history. Facility for genetic testing to analyse the fibroblast growth factor receptor (FGFR3) for typing and determining possible mutations was not available to confirm the diagnosis however, her clinical features and radiological findings were suggestive of thanotophoric dysplasia type 1.

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Thanatophoric dysplasia type 1 as seen in a tertiary institution in South-East Nigeria: A case report

Cited by 3 publications

References 8 publications

Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis

Thanatophoric Dysplasia: A Report of 2 Cases with Antenatal Misdiagnosis

Thanatophoric Dysplasia: Literature Review and Clinical Case in Monochoric Diamniotic Twins

Thanatophoric dysplasia: a case report at Federal Medical Centre Yenagoa, Bayelsa state Nigeria

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