We conclude that the CRMCC-associated bone disease is characterized by low BMD and pathological fractures with delayed healing, metaphyseal changes, and short stature pre- and postnatally. LRP5 is not a disease-causing gene in CRMCC. [ncbi.nlm.nih.gov]

We conclude that the CRMCC‐associated bone disease is characterized by low BMD and pathological fractures with delayed healing, metaphyseal changes, and short stature pre‐ and postnatally. [doi.org]

This case also illustrates the importance of WES in the diagnosis of children with extreme short stature. [abstracts.eurospe.org]

stature, and intellectual disabilities) 759.89 Rud's (mental deficiency, epilepsy, and infantilism) 759.89 Russell (-Silver) (congenital hemihypertrophy and short stature) 759.89 Seckel's 759.89 sick Silver's (congenital hemihypertrophy and short stature [icd9data.com]

Additional features were skeletal and hematologic abnormalities, intestinal bleeding, and poor growth. Neuropathologic examination showed extensive calcinosis and abnormal small vessels with thickened, hyalinized wall and reduced lumen. [ncbi.nlm.nih.gov]

At 23 yrs she presented with a height of 117.7 cm (-7.0 SDS), progeroid appearance, elevated upper/lower segment ratio (1.2), BMI -2.3 SDS, head circumference -2.0 SDS, breast stage 2, thin skin and hair, microdontia/oligodontia, high palate, right thumb [abstracts.eurospe.org]

Russell-Silver syndrome: microdontia and other 38. pertinent oral findings. ASDC J Dent Child. 1987 May-Jun;54(3):201-4. PubMed PMID: 3473100. 420: Jarczok K, Krzemień S, Kubińska E. [de.slideshare.net]

In the latter, a progressive formation of parenchymal brain cysts is a special feature, whereas Coats plus is characterized by intrauterine growth retardation, bilateral retinal telangiectasias and exudations (Coats disease), sparse hair, and dysplastic [ncbi.nlm.nih.gov]

AB - In 1988 we reported two sisters with bilateral Coats' disease, sparse hair, dystrophic nails, and primeval splashes of intracranial calcification. [research.manchester.ac.uk]

hair, dystrophic nails, and primeval splashes of intracranial calcification. [archive-ouverte.unige.ch]

At 23 yrs she presented with a height of 117.7 cm (-7.0 SDS), progeroid appearance, elevated upper/lower segment ratio (1.2), BMI -2.3 SDS, head circumference -2.0 SDS, breast stage 2, thin skin and hair, microdontia/oligodontia, high palate, right thumb [abstracts.eurospe.org]

We identified 13 patients, including two pairs of siblings, with extensive cerebral calcifications and leukoencephalopathy. [ncbi.nlm.nih.gov]

Corboy, Adult Cases of Leukoencephalopathy, Cerebral Calcifications, and Cysts: Expanding the Spectrum of the Disorder, Journal of Neuropathology & Experimental Neurology, 68, 4, (432), (2009). [doi.org]

B P. / Coats' Plus: A Progressive Familial Syndrome of Bilateral Coats' Disease, Characteristic Cerebral Calcification, Leukoencephalopathy, Slow Pre- and Post-Natal Linear Growth and Defects of Bone Marrow and Integument. [research.manchester.ac.uk]

Methods: We identified 13 patients, including two pairs of siblings, with extensive cerebral calcifications and leukoencephalopathy. [neurology.org]