heart failure 438 Pulmonary edema or congestion with normal or slightly enlarged heart 439 Cor pulmonale General overview 440 Azygos or hemiazygos vein enlargement 441 Asplenia syndrome 442 Systemic hypertension in childhood General overwview 443 Surgical [books.google.com]

We present a case of SED congenita with short stature since birth, flat midface, short neck, barrel chest with pectus carinatum, lumbar lordosis, myopia without retinal detachment, and flat, avoid-shaped vertebral bodies. [ncbi.nlm.nih.gov]

An autosomal condition of neonatal onset (OMIM:183900) characterised by shortened trunk, neck and proximal extremities, barrel chest, spinal involvement, and variably accompanied by myopia and retinal detachment. [medical-dictionary.thefreedictionary.com]

Systemic Features: Dwarfism with kyphosis and a barrel chest are characteristic. The vertebrae are often flattened and malformed and the neck is short. Delayed ossification in the epiphyses and the os pubis is common. [disorders.eyes.arizona.edu]

Physical characteristics include moderate short-stature (dwarfism); moderate to severe spinal deformities; barrel-chest; disproportionately short trunk and neck; disproportionately long arms, and premature osteoarthritis, especially in the hip joints. [diseaseinfosearch.org]

SYMPTOMS: Clinical signs of SEDC are short trunk dwarfism, barrel-chested, myopia (near-sightedness), retinal detachment, knees may be misaligned, decreased hearing, cleft palate, and flat facial features. [ksginfo.org]

Their height was less than -7SD of average Japanese of the same age, and all were associated with severe coxa vara. [ncbi.nlm.nih.gov]

Other skeletal signs include flattened vertebrae (platyspondyly), a hip joint deformity in which the upper leg bones turn inward (coxa vara), and an inward- and downward-turning foot (called clubfoot). [en.wikipedia.org]

The 2 types of the disease are the mild coxa vara form, with height maintained (as in our patient) and the severe coxa vara form, with clinical short stature. [consultant360.com]

In spite of generalized muscle hypotonia, the patient's response to atracurium was normal. At the end of surgery, neuromuscular blockade was reversed and the trachea extubated. [journals.lww.com]

Unlike X-linked SEDT, joint swelling and hand involvement are common features of this disorder. Morquio syndrome (mucopolysaccharidosis type IV) is characterized by mild dysostosis multiplex, odontoid hypoplasia, short stature, and cloudy corneas. [ncbi.nlm.nih.gov]

Unlike X-linked SEDT, joint swelling and hand involvement are common features of this disorder. Morquio syndrome (mucopolysaccharidosis type IV) is characterized by mild dysostosis multiplex, odontoid hypoplasia, short stature, and cloudy corneas. [ncbi.nlm.nih.gov]

In contrast, the patient with SED congenita, an 11 year old girl, had neck pain, hyperreflexia and loss of vibration sense in both legs. [ncbi.nlm.nih.gov]

We present a case of SED congenita with short stature since birth, flat midface, short neck, barrel chest with pectus carinatum, lumbar lordosis, myopia without retinal detachment, and flat, avoid-shaped vertebral bodies. [ncbi.nlm.nih.gov]

Physical examination revealed a child (85cm dwarf) with rounded facies, hypertelorism, knock-knee, thoracic kyphoscoliosis, pes cavus, low hairline, and short neck. There was generalized hypotonia of the limb and abdominal muscles. [journals.lww.com]

Most cases result from new mutations in the gene and occur in people with no family history of the condition. 0000774 Platyspondyly Flattened vertebrae 0000926 Short neck Decreased length of neck 0000470 Short stature Decreased body height Small stature [rarediseases.info.nih.gov]

Aiden also has a short neck and pubic bones that aren't yet fully ossified (still soft bone, the cartilage hasn't fully hardened yet). Another pointer to this type of skeletal dysplasia is that the discs in the bottom of his spine are thinner. [littlefireosuna.blogspot.com]

gait, stiff joints, loose ligaments and decreased ability to walk Craniofacial deformities, such as cleft palate, flat face and wide-set eyes Hearing and vision problems, including decreased vision, hearing deficits and deafness Digestive and stomach [chop.edu]

Patients had short-trunk dwarfism, short neck, spinal and limbs deformities, coxa vara, genu valgum, waddling gait and various joint diseases, especially loss of complete bone formation of femoral head. [journals.plos.org]

gait Imaging Radiographs recommended views AP, lateral, open mouth views of cervical spine AP, lateral views of thoracolumbar spine AP, lateral views of hips alternative views flexion-extension views of cervical, thoracolumbar spine findings cervical [orthobullets.com]

Waddling gait may be present. Adult height is either in the lower range of normal or mildly shortened. The limbs are relatively short in comparison to the trunk. [ncbi.nlm.nih.gov]