title: Extending the phenotype of lethal skeletal dysplasia type al Gazali.
abstract: In this study, we describe the clinical and radiological phenotype of two patients with a rare skeletal dysplasia type al Gazali. The phenotype is characterized by brachycephaly, flat face, hypertelorism, low-set ears, hypertrichosis, hypoplastic thorax, as well as short extremities with brachydactyly. Further characteristics are severe fetal hydrops, radiologic signs of increased bone density and short, poorly modeled tubular bones with wide diaphysis and smooth, rounded metaphyses. Cortical bones as well as vertebral endplates are thick and the skull is sclerotic with prominent parietal bones and a large anterior fontanel. Our cases suggest that skeletal dysplasia type al Gazali is a lethal condition and provide further evidence that it is inherited in an autosomal recessive manner. Both morphological and radiological features of these patients are very similar, which together with the previous report may indicate the presence of a new clinical entity in the group of skeletal dysplasias with increased bone density and metaphyseal and diaphyseal involvement. Surprisingly, histological analysis of the bone tissue and the growth plate shows completely normal structure, which suggests that the skeletal dysplasia type al Gazali is a systemic disorder resulting in increased bone density and restricted growth of the skeleton.
authors.affiliation: Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. giedre.grigelioniene@ki.se
authors.forename: Giedre
authors.initials: G
authors.lastname: Grigelioniene
authors.forename: Nikos
authors.initials: N
authors.lastname: Papadogiannakis
authors.forename: Peter
authors.initials: P
authors.lastname: Conner
authors.forename: Stefan
authors.initials: S
authors.lastname: Geiberger
authors.forename: Masanori
authors.initials: M
authors.lastname: Nishikawa
authors.forename: Masahiro
authors.initials: M
authors.lastname: Nakayama
mesh_terms: D000015:Abnormalities, Multiple / Q000473:pathology*; D001848:Bone Diseases, Developmental / Q000000981:diagnostic imaging*; D024043:Collagen Type II / Q000235:genetics; D055028:Comparative Genomic Hybridization; D017809:Fatal Outcome; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D007564:Japan; D008297:Male; D010641:Phenotype; D011859:Radiography; D017422:Sequence Analysis, DNA; D013548:Sweden; D013577:Syndrome
chemical_list: C499177:COL2A1 protein, human; D024043:Collagen Type II