Congenital Deformities

dogumsal-sekil-bozukluguCongenital deformities include problems like Cleftlip and Palate , Brachycephaly , Trigonocephaly , Scaphocephaly, Anterior Plagiocephaly, Tower Head / Oxycephaly, Flat Forehead ,  Flathead / Plagiocephaly , Craniosynostosis , Malocclusion ( Bad Bite ) , Apertsyndrome, Crouzonsyndrome , Pfeiffersyndrome , Treacher Collins syndrome (TCS), Hypertelorism .

Craniofacial dysostosis : Crouzon and Apert Syndromes

Crouzon and Apert are the most common of the craniosynostosis syndromes. Patients with Crouzon syndrome have the charecteristic features of craniosynostosis , exorbitism , and midface retrusion. Children with Apert syndromme in addition have syndactyly of the hands and feet.

Patients with Crouzon syndrome may present to the craniofacial team at different ages. Severe cases may be recognized at birth, and immediate referral to a team is initiated , whereas subtle manifestations of Crouzon syndrome may not be diagnosed and refered until later. Apert syndrome , however , is usually diagnosed at birth as a result of syndactyly.

Other Congenital Deformities :

*Carpenter Syndrome : Carpenter Syndrome is charecterized by craniosynostosis often associated with preaxial polysyndactyly of the feet , short fingers with clinodactyly and variable soft tissue syndactyly , sometimes postaxial polydactyly , and other anomalies such as congenital heart defects , short stature , obesity , and mental deficiency. It was first described by Carpenter in 1901 and was later recognized as an autosomal recessive syndrome.

*Saethre – Chotzen Syndrome : Saethhre – Chotzen Syndrome is charecterized by great variation in pattern of malformations , including craniosynostosis , low – set frontal hairline, facial asymmetry , ptosis of the upper eye lids , brachydactyly, partial cutaneous syndactyly , and other skletal anormalities.

*Kleblattschädel Anomaly: Kleblattschädel (cloverleaf) skull anomaly is a tribular shape of the skull secondary to craniosynostosis . It is known to be both etiologically and pathogenetically heterogenous . The cloverleaf skull malformation is nonspesific : It may be observed as an isolated anomaly or together other anomalies, making up various syndromes (i.e. Apert , Crouzon, Carpenter , Pfeiffer and Saethren Chotzen syndromes).

Hemifacial Microsomia / Goldenhar Syndrome: Hemifacial microsomia comprises various defects in the development of the first and second branchial arches. It maybe present in a mild form that involves mild facial asymmetry and microtia, or it maybe present in a severe form that includes additional ocular, vertebral, cardiac , and renal malformations , also known as Goldenhar syndrome. The external ear, middle ear, mandible and maxilla , temporal bone , facial muscles and muscles of mastication , tongue, and parotid gland may be underdeveloped. Affected children may have associated cleft lip – palate or macrostomia and also a branchial cleft sinus. Children who have a unilateral defect also have compensatory deformations of the unaffected side, especially in the mandible. A minority of individuals exhibit a bilateral form of this condition.

Congenital Deformities :

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