OCN is a major component of bone extracellular matrix and a marker of osteogenesis, whereas mutations in LMNA cause several genetic disorders called laminopathies, including mandibuloacral dysostosis (MAD) that manifests with low bone mass, severe bone [ncbi.nlm.nih.gov]

Abstract A 28-month-old girl with dysmorphic craniofacial features, microcephaly, hypotonia, psychomotor retardation, failure to thrive and gastrointestinal problems was referred for clinical evaluation. [ncbi.nlm.nih.gov]

Bennett, PhD, Lethargy, Failure to Thrive, and Psychomotor Retardation in an Infant, Laboratory Medicine, Volume 35, Issue 11, November 2004, Pages 665–668, Close Email Twitter Facebook More Navbar Search Filter Mobile Microsite Search Term Search Article [academic.oup.com]

A rare inherited growth disorder characterized by growth retardation, feeding difficulties, failure to thrive, facial abnormalities and asymmetry of limbs. Camptodactyly or clinodactyly may be present. [icd10data.com]

Differential diagnosis with ablepharon-macrostomia syndrome is presented. Cause is unknown. [ncbi.nlm.nih.gov]

All 4 patients presented with typical clinical signs of AHDS, including severe psychomotor retardation, axial hypotonia, lack of speech, diminished muscle mass, increased muscle tone, hyperreflexia, myopathic facies, high T3, low T4 and rT3, and normal [ncbi.nlm.nih.gov]

Additional findings included narrow, high arched palate, prominent nasal root, long philtrum, distended abdomen, and drooling from open mouth. Two of the three patients also had undescended testes, hypertelorism, and tapered fingers. [ncbi.nlm.nih.gov]

Investigations revealed hypokalemia at 2.7 mmol/L, metabolic alkalosis, hypocalciuria and normal serum magnesium level. The diagnoses of Barter syndrome (BS) and Gitelman syndrome (GS) were considered. [ncbi.nlm.nih.gov]