Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UNIPROT:Q86TM3 (cage)
 29,987 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A young girl suffering from asphyxiating thoracic dystrophy secondary to bronchial asthma was submitted to an allergologic evaluation. We have not found these processes associated in what some authors have called the "minor forms" of the Jeune syndrome. Osteochondrodysplasia, called in recent papers thoracic-pelvic-phalangeal dysplasia, is characterised by marked retraction of the thoracic cage associated with changes in the bones of the pelvis and extremities. We placed special emphasis on the classification of the different forms of presentation as being of greater or lesser severity from a clinical point of view, and stressed the importance of associated abnormalities (such as renal complications, as in the case of our patient) with respect to the eventual prognosis. The diagnosis of allergy is based on a detailed clinical history, positive results to cutaneous testing and the presence of specific IgE, together with the results of nasal provocation. The recording by rhinomanometre, of the temperature and pressure, and the assessment of the nasal mucosa following contact with the suspected allergen was also of help. Finally, having established the diagnosis, we advised the corresponding treatment, both from the allergic and renal viewpoints and concluded with an evaluation of the prognosis as conditioned by the renal pathology.
 ...
PMID:[Jeune syndrome and fungal bronchial asthma]. 710 88

Campomelic/camptomelic dysplasia is a very rare, severe osteochondrodysplasia characterised by severe skeletal and nonskeletal malformations and lethal outcome mainly in neonatal period. Characteristic abnormality by which the syndrome got its name is short, bowed long bones of lower extremities, most often of femur, manifested by short and bowed legs. Skin dimpling on tibial anterior side is another prominent characteristic of this syndrome. Severe cases are inherited by autosomal dominant trait, by mutation Sox9 gene on chromosome 17, with lethal outcome in the first days of life. Less severe forms of the disease are due to balanced translocation t (13;17) with life span up to the third decade of life. A majority of karyotypic males present as phenotypic females. We report a case of a female neonate, without consanguinity between parents, with characteristic signs of camptomelic dysplasia with short birth length of 46 cm, macrocephaly (head circumference 39 cm), dolichocephaly, hydrocephalus, short trunk and legs. Narrow rib cage, bowed lower extremities, short hand and foot phalanges, nail hypoplasia were noticed. Anterior fontanelle was enlarged, high forehead, face small and flat, hypertelorism, low nasal bridge, micrognathia, low set ears, cleft palate, were found. Characteristc skin dimpling on anterior side of tibia was present on both legs. Bone X-ray studies presented the following changes: anterior bowing of shortened femurs, hip dislocation, cervical vertebrae, scapulas, eleven pairs of slender ribs. Hip luxation. Karyotype was normal for a female, 46 XX. Respiratory insufficiency was present since birth, exacerbated, and led to lethal outcome in the second day of life, as described in the majority of these patients.
 ...
PMID:[Camptomelic dysplasia--a case report]. 1763 24