Cerebro-Oculo-Facio-Skeletal Syndrome Type 4 (Cerebrooculofacioskeletal Syndrome Type 4): Symptoms, Diagnosis and Treatment

Physician

Written for practicing clinicians, this volume is an excellent reference for physicians, audiologists, and other professionals working with individuals with hearing loss and their families, and can also serve as a text for clinical training programs and [books.google.com]

[…] of Physicians and Surgeons… 2012 Cerebro-oculo-facio-skeletal syndrome (COFSS) is a recessively inherited neurodegenerative disorder. [semanticscholar.org]

*Medscape Business of Medicine Academy Survey, September 2015 Learn from Experienced Professionals Courses were developed especially for physicians by business health experts and experienced physicians. [medscape.com]
Poor Growth

Introduction Cockayne syndrome (CS) is a rare autosomal recessive multisystem disorder characterized by poor growth, neurological abnormality and a short life span ( 1 ). It occurs at a rate of about 2.7 per million births in western Europe ( 2 ). [spandidos-publications.com]

Coxa Valga

She had microcephaly, bilateral congenital cataract, nystagmus, long ear pinnae, camptodactyly, prominent heels, coxa valga, kyphosis, and flexure contracture of the elbows and knees. CT scan showed bilateral symmetric intracranial calcifications. [datapunk.net]

A deformity of the hip (coxa valga) and porous bones (osteoporosis) may also occur. [rarediseases.org]
Small Foot

X-ra. studies may reveal displacement of the small foot bones between the ankle and toes (second metatarsals) and neuroimaging studies may show reduced white matter with gray matter mottling. [rarediseases.org]

Reduced Fetal Movement

In spite of the fact that fetal akinesia in humans is the major cause of AMC, there are multiple and varied intrinsic as well as extrinsic causes for reduced fetal movements. [hindawi.com]

Akinesia

Fetal akinesia deformation sequence due to a congenital disorder of glycosylation. Am J Med Genet A. 2015;167A(10):2411–2417. 61. Rae W, Gao Y, Bunyan D, et al. A novel FOXP3 mutation causing fetal akinesia and recurrent male miscarriages. [dovepress.com]

In spite of the fact that fetal akinesia in humans is the major cause of AMC, there are multiple and varied intrinsic as well as extrinsic causes for reduced fetal movements. [hindawi.com]

Fetal Akinesia-Hipokinesia Sindrome. El síndrome de secuencia acinesia/ hipocinesia fetal .... termedio entre los síndromes COFS y Neu- ... Syndrome of camptodactyly, multiple ankyloses, facial anomalies, and pulmonary. [zqkbrtlg.gq]

Fetal akinesia sequence. Peroxisomal acyl-CoA-oxidase deficiency. Pseudoneonatal adrenoleukodystrophy. Pseudo-NALD. ACOX1. Peroxisomal disorders. Infantile Refsum disease (Phytanic acid oxidase deficiency). Peroxisomal disorders. [neurometplus.com]
Hyperreflexia

Both hypotonia and hyperreflexia have been described. Kyphosis and scoliosis are common. CT scans may show intracranial calcifications and brain histology shows severe neurodegeneration with neuronal loss and gliosis. [disorders.eyes.arizona.edu]

They showed failure to thrive, recurrent pneumonias, axial hypotonia, appendicular hypertonia, hyperreflexia, and progressive contractures. Both were considered to have typical COFS syndrome. The girl died at age 5 years. [datapunk.net]

Symptoma