Rhizomelic chondrodysplasia punctata (RCDP) is a peroxisomal disorder characterized by disproportionately short stature primarily affecting the proximal parts of the extremities, a typical facial appearance including a broad nasal bridge, epicanthus, [diseaseinfosearch.org]

Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterized by disproportionate short stature with rhizomelic limb shortening, congenital cataracts, distinct facial features, severe intellectual disability, [ctgt.net]

Familial osteochondritis dissecans Orphanet_251262 [Familial osteochondritis dissecans is a rare genetic skeletal disorder characterized clinically by abnormal chondro-skeletal development, disproportionate short stature and skeletal deformation mainly [ebi.ac.uk]

After ten days, the baby was seen by the primary-care physician (PCP) for a new-onset fever and poor feeding. The patient was put on amoxicillin for otitis media but no clinical improvement ensued. [file.scirp.org]

Prevention of Secondary Complications Poor feeding and recurrent aspiration necessitate the placement of a gastrostomy tube. Note: Improved nutrition does not enhance linear growth. [ncbi.nlm.nih.gov]

Incesu, "Case report: rhizomelic chondrodysplasia punctata and foramen magnum stenosis in a newborn," Turkish Journal of Diagnostic and Interventional Radiology, vol. [medical-dictionary.thefreedictionary.com]

Chondrodysplasia punctata with a mild clinical course. J. Inher. Metab. Dis. 17, 60–66 (1994). 12 Barth, P.G., Wanders, R.J.A., Schutgens, R.B.H. & Staalman, C.R. [nature.com]

Echocardiography showed small patent ductus arteriosus, patent foramen ovale, and mild tricuspid regurgitation. X-ray of the upper extremities showed short humerus bones with stippled epiphyses ( Figure 1 ). [file.scirp.org]

Keywords: Rhizomelic Chondrodysplasia Punctata Type I, Seizure, Short Humerus ABSTRACT Rhizomelic Chondrodysplasia Punctata Type I is one of the rare peroxisome disorders. [file.scirp.org]

[…] thrive ; Flexion contracture ; Generalized hypotonia ; High forehead ; High palate ; Intellectual disability ; Irregular vertebral endplates ; Large fontanelles ; Microcephaly ; Micrognathia ; Muscular hypotonia ; Osteopenia ; Rhizomelia ; Scoliosis ; Short [mousephenotype.org]

The baby had short humerus bones with stippled epiphy-ses, consistent with the disease. He had also delay in myelinization on brain MRI with bilateral subependymal cysts over the atria and frontal horns of the lateral ventricles. [scirp.org]

Figure3: Infantogram of the patient with red arrows showing both short humerus and blue arrows show bilateral short femur bones Click here to view Abdominal and cranial ultrasonography was normal. Two-dimensional echocardiography was normal. [jcnonweb.com]

fontanelles ; Microcephaly ; Micrognathia ; Muscular hypotonia ; Osteopenia ; Rhizomelia ; Scoliosis ; Short humerus ; Stippled calcification proximal humeral epiphyses ; Wide nasal bridge Associated Genes GNPAT (Withdrawn symbols: DAP-AT, DAPAT, DHAPAT [mousephenotype.org]

In reference to the distinctive facial features include: prominent forehead, hypertelorism, midface hypoplasia, a small nose pointing upwards and prominent cheeks. [ivami.com]

RCDP sufferers have severe learning difficulties. The condition can be life-limiting at an early age. RCDP is classed as ‘peroxisomal’ disorder. [geneticdisordersuk.org]