Cardiac Arrhythmia
stature) and OSA.[ncbi.nlm.nih.gov]
Three relatives had clinodactyly as the only manifestation but the R218W mutation was absent, suggesting that this characteristic may be influenced by another gene.[ncbi.nlm.nih.gov]
[…] revealed the R218W mutation in the index patient and her 6-year-old daughter, who presented dysmorphic abnormalities (micrognathia, clinodactyly of fourth and fifth fingers, short[ncbi.nlm.nih.gov]
Growth Failure
Additional Testing in All Girls Referred for GF with a HSDS TS is a well-known and relatively frequent cause of short stature in girls (online suppl.[karger.com]
[…] compounds as growth stimulants in children with short stature.[jamanetwork.com]
In a child with short stature secondary to endocrine pathology, the child's weight will continue to progress normally or even increase relative to his or her height.[hawaii.edu]
Endocrine Dysfunction
The commonly observed endocrine manifestations in CLD are short stature, hepatic osteodystrophy, delayed puberty, hypogonadism, relative adrenal insufficiency and Sick Euthyroid[jfmpc.com]
Joint Subluxation
Saul-Wilson syndrome (SWS) is a rare congenital skeletal syndrome characterized by postnatal onset of short stature, relative microcephaly, frontal bossing, prominent eyes[ncbi.nlm.nih.gov]
Acute Angle Closure Glaucoma
The physical examination showed brachydactyly and relatively short stature.[ncbi.nlm.nih.gov]
Spondylo-Megaepiphyseal-Metaphyseal Dysplasia
stature with a short and stiff neck and trunk, relatively long limbs that may show flexion contractures of the distal joints, delayed and impaired ossification of the vertebral[malacards.org]
stature with short, stiff neck and trunk and relatively long limbs, fingers and toes (which may present flexion contractures), severe vertebral body ossification delay (with[orpha.net]
Spondylo-megaepiphyseal-metaphyseal dysplasia ( SMMD ; MIM 613330) is a rare autosomal recessive skeletal dysplasia characterized by disproportionate short stature with a[ctgt.net]
Epilepsy
[…] microcephaly, mild facial dysmorphisms microcephaly, short stature, mild facial dysmorphisms microcephaly, congenital hypothyroidism, bicuspid aortic valve, hypotonia microcephaly[ncbi.nlm.nih.gov]
[…] severe speech impairment mild ID mild ID mild to moderate ID, speech impairment severe ID mild ID moderate to severe ID unspecified delay Other clinical findings ataxia, relative[ncbi.nlm.nih.gov]
Stiff Skin Syndrome
short stature.[ncbi.nlm.nih.gov]
[…] associated with scoliosis, restrictive pulmonary changes (as observed in the proband), focal lipodystrophy, hypertrichosis, muscle weakness, growth retardation, and /or relative[ncbi.nlm.nih.gov]
Medullary Thyroid Carcinoma
A 31-year-old woman presenting a short stature and a palpable nodule in the front of her neck that had gradually increased in size during the last 2 years was referred to[ncbi.nlm.nih.gov]
Medullary thyroid carcinoma (MTC) is also a relatively rare type of primary thyroid carcinoma.[ncbi.nlm.nih.gov]
Juvenile Rheumatoid Arthritis
stature (vBMD), infliximab exposure (vBMD), and JIA duration (section modulus).[ncbi.nlm.nih.gov]
The section modulus was significantly reduced relative to mCSA in patients with JIA after adjustment for age and limb length.[ncbi.nlm.nih.gov]
[…] musculoskeletal deficits included active arthritis in the previous 6 months (mCSA), temporomandibular joint disease (mCSA and section modulus), functional disability (mCSA and vBMD), short[ncbi.nlm.nih.gov]