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Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Because the branchial arches are important developmental features in a growing embryo, disturbances in their development ...
A baby with Pfeiffer syndrome may have a small, beak-shaped nose; crowded, crooked teeth; and sleep apnea, due to nasal blockage. There are three main types of Pfeiffer syndrome: type I is the mildest and most common; type II is the most severe, with neurological problems and a cloverleaf deformity; and type III is similar to type II, but ...
Currently, Noack syndrome (ACPS type I) is now classified as Pfeiffer syndrome (ACS type V); Goodman syndrome (ACPS type IV) is classified as a variation of Carpenter syndrome (ACPS type II); and different researchers have combined Apert (ASC type I), Crouzon (ASC type II), and Pfeiffer (ASC type V) syndrome into Apert-Crouzon and Crouzon ...
This mechanism is found in patients with Crouzon and Pfeiffer syndrome. The second, which is associated with Apert syndrome is a loss of specificity of the FGFR2 isoform, resulting in the receptor binding to FGFs that it does not normally bind. See also. Cluster of differentiation; References
The cranial bones are affected as well, similar to Crouzon syndrome and Pfeiffer syndrome. Craniosynostosis occurs when the fetal skull and facial bones fuse too soon in utero, disrupting normal bone growth. Fusion of different sutures leads to different patterns of growth on the skull.
Muenke syndrome: coronal craniosynostosis (plagiocephaly and brachycephaly), short feet and palms, hearing impairment, hypertelorism, and proptosis. Pfeiffer syndrome: abnormalities of the skull, hands, and feet; wide-set, bulging eyes, an underdeveloped upper jaw, beaked nose.
A conductive hearing loss along with middle ear disease is most commonly seen in patients with Pfeiffer syndrome; although, there have been reports of mixed hearing loss as well. The hearing loss is most typically caused by stenosis or atresia of the auditory canal , middle ear hypoplasia and ossicular hypoplasia (Vallino-Napoli, 1996).
These conditions are Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, achondroplasia, thanatophoric dysplasia, multiple endocrine neoplasia type 2, and multiple endocrine neoplasia type 2b. The most significant effect concerns achondroplasia (a form of dwarfism ), which might occur in about 1 in 1,875 children fathered by men over 50 ...
Also any condition that causes significant depression of the nasal bridge or midface retraction can be associated with choanal atresia. Examples include the craniosynostosis syndromes such as Crouzon syndrome, [1] Pfeiffer syndrome, [1] Treacher Collins syndrome, [1] Apert syndrome, [1] and Antley-Bixler syndrome .
It should be differentiated from Crouzon syndrome. Oxycephaly (or acrocephaly) is a form of turricephaly where the head is cone-shaped, and is the most severe of the craniosynostoses.