Other pharyngeal region (Fig. 1). The clavicles and ribs were 1. Brachytelephalangic chondrodysplasia punctata normally formed. The spine showed minimal coronal 2. [updoc.site]

Figure 1: Facial features showed mid-face hypoplasia, upward slant of the palpebral fissures, a small/flat nose with depressed nasal bridge, a long upper lip with a flat-long philtrum, macrostomia and a high palate and a thin vermilion border. [sprout038.sprout.yale.edu]

Figure 1 Facial features showed mid-face hypoplasia, upward slant of the palpebral fissures, a small/flat nose with depressed nasal bridge, a long upper lip with a flat-long philtrum, macrostomia and a high palate and a thin vermilion border. [casesjournal.biomedcentral.com]

Lateral spine radiograph showed normal vertebral anatomy but with loss of the physiological lumbar lordosis (figure 7 ). [casesjournal.biomedcentral.com]

Thecervical spine showed loss of normal lordosis with minorkyphos at the C4/C5 level, but no other abnormalities(Fig. 5e).Patient 3. [dokumen.tips]

[…] bridge SOURCES: OMIM MESH GARD DOID MONDO ORPHANET NCIT UMLS More info about CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD High match HYPOCHONDROPLASIA; HCH Hypochondroplasia is a autosomal dominant disorder characterized by short-limbed dwarfism, lumbar lordosis [mendelian.co]

Clinically some forms show only moderate short stature, others may show short, broad limbs, swelling at end of long bones, flexion contractures, exaggerated lumber lordosis, waddling gait or severe dwarfism. [atulchoube.wordpress.com]

Figure 5 Anteroposterior lower pelvis and long bones radiograph showed Coxa valga, long femoral neck and inward curvation of the femoral shafts associated with widened metaphyses of the inferior femora. [casesjournal.biomedcentral.com]

Journal of Medical Genetics. 35. 1998 1997 Journal Articles Innovative counselling for the predictive testing programme for Huntington's disease 1997 Spinal muscular atrophies: An ongoing diagnostic dilemma?. [findanexpert.unimelb.edu.au]

[…] generalisata Hypocalcemic rickets Hypocalcemic vitamin D-dependent rickets Hypocalcemic vitamin D-resistant rickets Hypochondrogenesis Hypochondroplasia Hypophosphatasia Hypophosphatemic rickets IMAGe syndrome Idiopathic juvenile osteoporosis Inclusion body myopathy [se-atlas.de]

Muscle weakness and hyporeflexia or areflexia may be evident. Histologically and anatomically, the involved muscle demonstrates marked variation in fiber size. [radiologykey.com]