[…] calvicles Hypoplastic scapulae Snail-like ilia Flat acetabular roofs Sacral stenosis Precociously ossified ischium Precociously ossified tarsus Vertebra Chest Pelvis Other -c - 1 case Precociously ossified carpal bone - Brachydactyly present; - absent. collapsed [documents.tips]

OI type II, known as the perinatal lethal type, is the manifestation of a new mutation in most cases and is characterized by severe osteopenia, blue sclera, short and bowed or angulated extremities, a diminutive thorax, and crumpled or collapsed long [basicmedicalkey.com]

Table 1 Characteristics of the Schneckenbecken dysplasia patients Patient 1 Patient 2 Patient 3 Patient 4 Patient 5 Clinical information Ethnic origin Caucasian Turkish Turkish Turkish Brazilian Consanguinity ( ) ( ) Gestational age (weeks) 18 22 20 20 [ncbi.nlm.nih.gov]

[…] context of our study because of its clinical and radiographic phenotypic similarities to SBD and its pathogenesis related to impairment of a membrane sulfate transporter termed DTDST (diastrophic dysplasia sulfate transporter) affecting sulfation of GAG [ncbi.nlm.nih.gov]

It is generally non-lethal, and is characterized by severe delay in skeletal ossification, short limbs, small hands and feet, severe platyspondyly with hypoplastic vertebral bodies, metaphyseal cupping, squared iliac bones, horizontal acetabular roofs [ctgt.net]

Opsismodysplasia is generally non-lethal and is characterized by dysmorphic craniofacial features, a large anterior fontanelle, short stature and small hands and feet. [ncbi.nlm.nih.gov]

The condition may cause cleft palate, short neck, short stature, unusual shape of iliac bones and other bone abnormalities. The condition generally leads to stillbirth or death of the newborn soon after birth. [xpertdox.com]

Overview A very rare genetic disorder involving defective bone and cartilage development which causes cleft palate, short neck, short stature, unusual iliac shape and other bone abnormalities. [checkorphan.org]

neck Short, splayed ribs Snail-shaped ilia [datagenno.com]

Clinical findings include relative macrocephaly, a very flat midface, cleft palate, a short neck, a narrow thorax, brachydactyly, and a high incidence of polyhydramnios. [ncbi.nlm.nih.gov]

neck Short ribs Frequently present symptoms in 30-79% of the cases: Abnormality of the fingernails Cryptorchidism Dolichocephaly Hypoplastic toenails Occasionally present symptoms in 5-29% of the cases: In addition to the above, the following signs and [dovemed.com]

A severely hydropic fetus with a swollen face with a bipartite nose, thick lips, narrow thorax and micromelic limbs were noted at postmortem examination. The autopsy revealed placental hydropic changes, pulmonary hypoplasia and accessory spleen. [ncbi.nlm.nih.gov]

Spinocerebellar ataxia 5 Floating-Harbor syndrome Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay. [amp.pharm.mssm.edu]