| craniofacial | Relating to both the face and the cranium. (05 Mar 2000) |
|---|---|
| craniofacial abnormalities | Congenital structural deformities, malformations, or other abnormalities of the cranium and facial bones. (12 Dec 1998) |
| craniofacial angle | The angle formed by the basifacial and basicranial axes at the midpoint of the sphenoethmoidal suture. (05 Mar 2000) |
| craniofacial appliance | A device used to immobilise and/or reduce mandibular or midfacial fractures. See: fixation. (05 Mar 2000) |
| craniofacial axis | A straight line passing through the mesethmoid, presphenoid, basisphenoid, and basioccipital bones. (05 Mar 2000) |
| craniofacial dysjunction fracture | A complex fracture in which the facial bones are separated from the cranial bones. Synonym: Le Fort III craniofacial dysjunction, Le Fort III fracture, transverse facial fracture. (05 Mar 2000) |
| craniofacial dysostosis | <paediatrics> A genetic disorder (autosomal dominant) characterised by abnormalities of the cranial sutures, widening of the skull, a high forehead, ocular hypertelorism, exophthalmos, beaked nose and hypoplasia of the maxilla Inheritance: autosomal dominant. (27 Sep 1997) |
| craniofacial fixation | Stabilization of facial fractures to the cranial base by direct wiring or by external skeletal pin fixation. (05 Mar 2000) |
| craniofacial notch | A defect in the osseous partition between the orbital and nasal cavities. (05 Mar 2000) |
| craniofacial surgery | Simultaneous surgery on the cranium and facial bones. (05 Mar 2000) |
| craniofacial suspension wiring | A method of wiring using areas of bones not contiguous with the oral cavity for the support of fractured jaw segments (e.g., pyriform aperture, zygomatic arch, zygomatic process of the frontal bone). (05 Mar 2000) |
| Le Fort III craniofacial dysjunction | A complex fracture in which the facial bones are separated from the cranial bones. Synonym: Le Fort III craniofacial dysjunction, Le Fort III fracture, transverse facial fracture. (05 Mar 2000) |
| Aarskog-Scott syndrome | A syndrome of ocular hypertelorism, anteverted nostrils, broad upper lip, saddle-bag scrotum, and laxity of ligaments resulting in genu recurvatum, flat feet, and hyperextensible fingers; X-linked and autosomal dominant forms. Synonym: Aarskog-Scott syndrome. (05 Mar 2000) |
| Aarskog syndrome | <syndrome> Grier et al. (1983) reported father and 2 sons with typical Aarskog syndrome, including short stature, hypertelorism, and shawl scrotum. They tabulated the findings in 82 previous cases. X-linked recessive inheritance has been repeatedly suggested. The family reported by Welch (1974) had affected males in 3 consecutive generations. Thus, there is either genetic heterogeneity or this is an autosomal dominant with strong sex-influence and possibly ascertainment bias resulting from use of the shawl scrotum as a main criterion. Stretchable skin was present in the cases of Grier et al. (1983). Teebi et al. (1993) reported the case of an affected mother and 4 sons (including a pair of monozygotic twins) by 2 different husbands. They suggested that the manifestations were as severe in the mother as in the sons and that this suggested autosomal dominant inheritance. Actually, the mother seemed less severely affected, compatible with X-linked inheritance. Clinical signs: Mild to moderate short stature,normocephaly, Widow's peak hair, maxillary hypoplasia, broad nasal bridge, anteverted nostrils, long philtrum, broad upper lip, curved linear dimple below the lower lip, hypertelorism, ptosis, down-slanted palpebral fissures, ophthalmoplegia, strabismus, hyperopic astigmatism, large cornea, floppy ears, lop-ears,cleft lip/palate, shawl scrotum, saddle-bag scrotum, cryptorchidism, brachydactyly, digital contractures, clinodactyly, mild syndactyly, transverse palmar crease, lymphoedema of the feet, ligamentous laxity, osteochondritis dissecans, proximal finger joint hyperextensibility, flexed distal finger joints, genu recurvatum, flat feet, stretchable skin, cervical spine hypermobility, odontoid anomaly, macrocytic anaemia, hemochromatosis, hepatomegaly, portal cirrhosis, imperforate anus, rectoperineal fistula, interstitial pulmonary disease, sternal deformity. Inheritance: Sex-influenced autosomal dominant form, also X-linked form. (05 Aug 1998) |
| abdominal muscle deficiency syndrome | <syndrome> Congenital absence (partial or complete) of abdominal muscles, in which the outline of the intestines is visible through the protruding abdominal wall; in males, genitourinary anomalies (urinary tract dilation and cryptorchidism) are also found; genetics unclear. (05 Mar 2000) |