Schneckenbecken Dysplasia in Fetus: Report of Four Cases

Abstract

Several different types of lethal short-limbed skeletal dysplasia with platyspondylia have been recognized with a different mode of inheritance. Schneckenbecken dysplasia, a very rare lethal osteochondrodysplasia, is included in these entities, with an autosomal recessive mode of inheritance. We describe 4 new Tunisian cases with clinical, radiographic and histopathological features. The fetuses were of consanguineous parents. Prenatal diagnostics of short limbs were carried out on ultrasounds at 20, 22, 23 and 28 weeks of gestation. The radiographic findings were typical, showing especially the small ilia with medial snail-like projection. The chondro-osseous histology of the 4 cases was compatible with the diagnostics demonstrating cartilage anomalies characterized by hypercellularity, hypervascularisation and chondrocytes with central large round nucleus. Schneckenbecken dysplasia should be considered when the phenotype of dwarfism and snail feature of iliac bone associated with histological finding are presented. Frozen fetal samples should be taken in order to look for candidate genes.

Molecular asymmetry in the 8-cell stage Xenopus tropicalis embryo described by single blastomere transcript sequencing

“…The most asymmetrically expressed novel gene in the animal blastomeres, Slc35d1 , is implicated in the human disease Schneckenbecken dysplasia ( Borochowitz et al, 1986 ), considered to be associated with a dwarfism phenotype ( Lahmar-Boufaroua et al, 2009 ). To explore the importance of this gene in X. tropicalis during early development we injected a translation blocking morpholino oligonucleotide at different concentrations ( Section 2 ).…”

Pathologic Diagnosis of Achondrogenesis Type 2 in a Fragmented Fetus: Case Report and Evidence-Based Differential Diagnostic Approach in the Early Midtrimester

“…However, 2 points should be considered here. First, our review of the literature showed that early midtrimester cases of the former 2 entities did not exhibit strikingly large barbell-like metaphyses [27,28,39]. Additionally, although the early midtrimester cases of Blomstrand dysplasia we identified did show enlarged metaphyses, the predominant findings were the markedly increased bone density and the thickened ribs [26].…”

“…Early midtrimester cases of Schneckenbecken dysplasia [39] and Torrance dysplasia [9], each reported at 20 weeks gestation, showed the expected short femora and humeri and platyspondyly. Our literature review did not identify early midtrimester cases of hypochondrogenesis or type 2 thanatophoric dysplasia.…”

A novel SLC35D1 variant causing milder phenotype of Schneckenbecken dysplasia in a large pedigree

“…SHNKND is severe lethal skeletal dysplasia which is characterized by a snail‐like pelvis, flattening of vertebral bodies, short and broad long bones with a dumbbell‐like appearance, hook‐shaped clavicles, hypoplastic scapulae, and thoracic hypoplasia. Clinical features of SHNKND patients are micromelic dwarfism, relative macrocephaly, flat midface, cleft palate, short neck, narrow chest, short ribs, brachydactyly, polyhydramnios (Borochowitz et al, 1986; Lahmar‐Boufaroua et al, 2009; Nikkels et al, 2001). All of the patients reported so far were stillborn or lethal in the neonatal period.…”

“…narrow chest, short ribs, brachydactyly, polyhydramnios (Borochowitz et al, 1986;Lahmar-Boufaroua et al, 2009;Nikkels et al, 2001). All of the patients reported so far were stillborn or lethal in the neonatal period.…”