Attenuated Type of Asphyxiating Thoracic Dysplasia due to Mutations in DYNC2H1 Gene

Asphyxiating thoracic dysplasia (ATD) represents a heterogeneous group of skeletal dysplasias with short ribs, narrow chest and reduced thoracic capacity. Mutations in several genes including IFT80, DYNC2H1, TTC21B and WDR19 have been found in patients with ATD. Both severe and milder course of the disease were described in correlation with secondary involvement of lung’s function. Two children with attenuated form of ATD are described. Their anthropometric parameters for birth weight, length and head circumference were normal but narrow thorax was observed in both of them in early infancy with chest circumference < –3 SD (standard deviation) in comparison to age related controls. The postnatal adaptation and development of both children was uneventful except for mild tachypnoea in one of them which persisted till the age of 6 months. In both children, radiographs revealed narrow upper half of the chest with shorter ribs and atypical configuration of pelvis with horizontally running acetabula and coarse internal edges typical for ATD. Molecular analyses using whole exome sequencing in one family revealed that the patient is compound heterozygote in DYNC2H1 gene for a frame-shift mutation c.4458delT resulting in premature stop-codon p.Phe1486Leufs*11 and a missense mutation c.9044A>G (p.Asp3015Gly). The second family refused the DNA analysis. Regular monitoring of anthropometric parameters during childhood is of big importance both in health and disease. In addition, measurement of the chest circumference should be included, at least at birth and during infancy.

Short-Rib (±Polydactyly) Dysplasias

This chapter discusses short-rib (± polydactyly) dysplasias and related disorders and includes discussion on asphyxiating thoracic dysplasia, Ellis van Creveld syndrome, short rib ±polydactyly syndrome (Saldino-Noonan and Verma-Naumoff types), short rib (±polydactyly) syndrome (Majewski type), short rib ±polydactyly syndrome (Beemer-Langer type), cranioectodermal dysplasia, Mainzer-Saldino syndrome, and axial spondylometaphyseal dysplasia. Each discussion includes major radiographic features, major clinical findings, genetics, major differential diagnoses, and a bibliography.

Ellis-van Creveld syndrome affecting siblings: A case report and review

Ellis-van Creveld syndrome (EVC) is a genetic disorder that was first described by Richard Ellis and Simon van Creveld in 1940. EVC is a rare autosomal recessive disease resulting from a genetic defect located in chromosome 4p16. The name chondroectodermal is used as it affects both the skeleton (chondro) and the skin (ectoderm). The four principal characteristics are chondrodysplasia, polydactyly, ectodermal dysplasia and congenital heart defects. The patients have small stature, short limbs, fine sparse hair and hypoplastic nails. The orofacial manifestations include multiple gingivolabial musculofibrous frenule, dental anomalies like hypodontia associated with malocclusion. This entity can be diagnosed at any age, even during pregnancy. The differentiation should be made between Asphyxiating Thoracic Dysplasia (Jeune syndrome) and other orofaciodigital syndromes. A multidisciplinary approach is required to manage this condition. We are reporting a rare clinical entity of chondroectodermal dysplasia with classical signs affecting siblings who reported to the Department of Oral Medicine and Radiology with review of its literature. How to cite this article Mamatha GP, Manisha J, Rajeshwari GA, Poornima P, Subba Reddy VV. Ellis-van Creveld syndrome affecting siblings – A case report and review. CODS J Dent 2014;6;40-44

Asphyxiating Thoracic Dysplasia (Mim 208500)

Chapter 54 covers asphyxiating thoracic dysplasia (MIM 208500), including major clinical findings, radiographic features, and differential diagnoses.