It is marked by shortness and hyperextension of the neck causing the head to appear as if it were resting directly on the shoulders, short trunk, long extremities with excessive [icd9data.com]

Herein, we report an extremely rare manifestation of MPS IVB in a 60-year-old female patient who underwent a successful aortic valve replacement. [ncbi.nlm.nih.gov]

The patient presented with mild coarse facial features, short stature, mild dyspnea, sternal protrusion, mild lumbar hyperlordosis, and waddling gait owing to bilateral femoral [ncbi.nlm.nih.gov]

The condition is extremely rare, with an estimated overall prevalence of 7.2/1,000,000 or approximately 1/140,000. [en.wikipedia.org]

prevention and management of obesity and short stature, management of ossifications and accurate genetic and prenatal counselling. [doi.org]

Types include: Type 1a (OMIM 103580) Has a characteristic phenotypic appearance (Albright's hereditary osteodystrophy), including short fourth and fifth metacarpals and a [en.wikipedia.org]

Abstract Osteogenesis imperfecta is a congenital disorder resulting in multiple fractures and extremely short stature, usually necessitating cesarean delivery. [ncbi.nlm.nih.gov]

It is characterised by deformity of bones increasing with age and by extreme short stature due to repeated childhood fractures. [patient.info]

Symptoms included constipation (20%), gastroesophageal reflux (18%), failure to thrive (10%), diarrhea (6%), and extreme short stature (4%). [journals.lww.com]

[…] neck and generous nuchal skin General physical features in patients with Down syndrome may include the following: Shortened extremities Short, broad hands, with short fifth [emedicine.com]

Growth retardation was noted in only three patients, with only one of them exhibiting extreme short stature, defined as height below the 5th percentile based on normative [journals.lww.com]

Clinical findings were lamellar ichthyosiform desquamation on the extremities. The hair was scanty and short on the scalp, in the eyelashes, and in the eyebrows. [ncbi.nlm.nih.gov]

Plain film Skeletal features: shortened extremities cup deformity of ribs Ultrasound Hyperechoic pancreas due to extreme pancreatic lipomatosis, usually with preservation [radiopaedia.org]

Patient characteristics Growth failure resulted in an extremely short stature in some patients, but was never disproportionate of nature. [bloodjournal.org]

We report the case of a 5 year old, initially followed for congenital sideroblastic anemia, whose explorations reveal a complex family hemoglobinopathy. Myelogram performed in children, reveals dystrophic mature erythroblasts with hemoglobinization defect and basophil punctuations. These abnormalities point towards an[…] [ncbi.nlm.nih.gov]

He has a normal craniofacial appearance but a disproportionate body with normal trunk and short extremities with height below the 3rd percentile. [ncbi.nlm.nih.gov]

Esra Döğer, Aysun Bideci, Öznur Boyunağa, Aylin Kılınç Uğurlu, Emine Demet Akbaş, Orhun Çamurdan & Peyami Cinaz Aim: Pseudoacondroplasia is a short extremity dwarfism characterized [abstracts.eurospe.org]

Height is normal at birth but then goes into the less than fifth percentile by age 2 Short extremities Misalignment of the lower extremities with bowing on one side and knock [hopkinsmedicine.org]

Hypochondroplasia (HCH) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar [ncbi.nlm.nih.gov]

RESULTS: The proband and his mother all presented disproportionate short stature, short, stubby extremities, unchanged interpedicular distances from L1-L5, and short iliac [ncbi.nlm.nih.gov]

Hypochondroplasia (HCP) is an autosomal dominant skeletal dysplasia characterized by short extremities, short stature and lumbar lordosis, usually exhibiting a phenotype similar [ncbi.nlm.nih.gov]

[…] of short extremities, a large head, and trident-shaped hands. • Achondroplasia is an autosomal dominant disorder caused by mutations in fibroblast growth factor receptor [medlink.com]

The baby with achondroplasia has a relatively long, narrow torso (trunk) with short extremities (arms and legs) and a disproportionate shortening of the proximal (near the [medicinenet.com]

Achondroplasia is a disorder of bone formation, primarily affecting the long bones of the extremities and the base of the skull, resulting in characteristic features of short [medlink.com]

Walker et al in their review article on MPS have stated that the LMA was found to be extremely useful both to provide a secure airway for short procedures and also to clear [ijaweb.org]

Patients present with short stature, flat nasal bridge, and joint findings. Urine GAGs are normal in MPS IX. [neurology.testcatalog.org]

Standard reference equations based on data from normal individuals may not apply to MPS patients with systemic skeletal dysplasia and extremely short stature. [link.springer.com]