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Coffin-Lowry Syndrome
Patients are usually short with delayed bone age; joints are hyperextensible. The cognitive function of affected males is usually severely impaired.[genedx.com]
Involvement of the musculoskeletal system presents as short thorax, bifid sternum, pectus excavatum or carinatum, vertebral dysplasia, kyphosis, scoliosis, delayed bone age[accessanesthesiology.mhmedical.com]
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SHORT Syndrome
Additionally, the patients usually present a low birth weight and height, lipodystrophy, delayed bone age, hernias, low body mass index and a progeroid appearance.[ncbi.nlm.nih.gov]
bone age, delayed speech, normal intellect, glucose intolerance, and insulinopenic diabetes.[ncbi.nlm.nih.gov]
In addition to intrauterine growth retardation (IGR), which is readily noted, microcephaly, delayed bone age, and gracile long bones are observed in the majority of cases.[symptoma.com]
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Cataract - Congenital Heart Disease - Neural Tube Defect Syndrome
A spine x ray at 2 years of age showed mild, generalised decreased bone density and borderline delayed bone age.[jmg.bmj.com]
Generalised decreased bone density and borderline delayed bone age were also noted. Her growth has continued to be delayed.[jmg.bmj.com]
A spine x ray at 5 years of age showed multiple compression deformities of the spine resulting in thoracolumbar dextroscoliosis, thoracic kyphosis, and lumbar lordosis.[jmg.bmj.com]
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Nephropathic Cystinosis
All patients were growth retarded with delayed bone ages. Puberty occurred late, but was generally complete by 17 years of age. Hepatic function appeared normal.[ncbi.nlm.nih.gov]
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Hunter-MacDonald Syndrome
bone age Abnormal bone development Mitral valve prolapse Bicuspid aortic valve Mild mitral regurgitation Mild aortic regurgitation Narrowed pulmonary valves Impaired hearing[teenproblemspot.blogspot.com]
bone age * Abnormal bone development * Mitral valve prolapse * Bicuspid aortic valve * Mild mitral regurgitation * Mild aortic regurgitation * Narrowed pulmonary valves *[checkorphan.org]
[…] forehead Droopy eyelids Thin upper lip Long neck Pigeon chest Hyperextensible joints Partially dislocated thumbs Partially dislocated elbows Metatarsus adductus Skewed fingers Delayed[teenproblemspot.blogspot.com]
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Rubinstein-Taybi Syndrome
Additional observations include maternal pre-eclampsia (2/9), syndactyly (3/9), feeding or swallowing issues (3/9), delayed bone age (2/9) and scoliosis (2/9).[ncbi.nlm.nih.gov]
bone age) • Broad nasal bridge • Malformed ears • High arched palate • Extra fold of skin on either side of the nose • Small head (microcephaly) • Small lower jaw • Flat[aapos.org]
[…] the following is a list of the reported traits: • Broad thumbs and/or toes (sometimes angulated) • Mental retardation (from mild to severe) • Beaked nose • Short stature (delayed[aapos.org]
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Wolf Hirschhorn Syndrome
At autopsy, the fetus showed typical craniofacial dysmorphic signs of WHS, severe IUGR and delayed bone age.[ncbi.nlm.nih.gov]
bone age [ 15 ].[bmcpregnancychildbirth.biomedcentral.com]
[…] found in patients with WHS, including split hand, clinodactyly, club feet, scoliosis and kyphosis, malformed toes, finger-like appearance of thumb, long slender fingers and delayed[bmcpregnancychildbirth.biomedcentral.com]
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Ruijs Aalfs Syndrome
The boy was noted to have growth retardation at age 3 years; at age 7 he was found to have thoracic kyphosis, frontal bossing, and a delayed bone age of approximately 3 years[ncbi.nlm.nih.gov]
Description Ruijs et al. (2003) reported a Moroccan boy with a chromosomal breakage who died of hepatocellular carcinoma at age 17 years.[mendelian.co]
Delayed skeletal maturation can be diagnosed on the basis of an estimation of the bone age from radiographs of specific bones in the human body.[ncbi.nlm.nih.gov]
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Spondylocarpotarsal Synostosis
In addition to the typical findings of this disorder, he demonstrated ossification delay of multiple epiphyses (especially delayed carpal bone age) and bilateral proximal[bio2rdf.org]
bone age.[docslide.fr]
In addition to the typical phenotype of SCT syndrome, he showed pronounced delay of carpal bone age and bilateral epiphyseal dysplasia of the proximal femora.[ncbi.nlm.nih.gov]
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Shwachman Syndrome
Skeletal manifestations include delayed bone age with marked carpal delay, broad cup-like anterior ribs, metaphyseal irregularities, and coxa vara with short femoral necks[mirc.rsna.org]
Bone involvement is characterized by delayed bone age and maturation with metaphyseal dysplasia resulting in short stature, pectus carinatum , and generalized osteopenia.[orpha.net]
age and delayed puberty.[signavitae.com]