Malformations of the face and skull represent a large portion
of structural malformations in humans. These malformations can carry
significant morbidity and often require surgical management within
the first few months of life. Many children with craniofacial malformations
are managed by multidisciplinary teams that often include an audiologist,
dietician, geneticist, neurosurgeon, nurse coordinator, pediatrician,
oral and maxillofacial surgeon, orthodontist, otolaryngologist,
plastic/reconstructive surgeon, social worker, and speech
pathologist. This chapter presents the major types of craniofacial malformations, their
classification, heredity, and suggested management.
All children born with structural malformations of the face and/or
skull require a careful physical examination, as many (20%)
have associated anomalies that can involve multiple systems. When
approaching the examination of a child with a craniofacial malformation,
one needs to examine the entire child. The malformations of craniofacial
structures can be so dramatic that the examiner overlooks other associated
anomalies that deserve attention and may be associated with a unifying
diagnosis. One approach is to leave the examination of the skull
and face until the rest of the exam is complete. This allows the
examiner to be sure that the other portions of the exam are normal.
A list of common syndromes associated with each malformation type
is presented in Table 177-1.
Table 177-1. Common Malformations
and Syndromes Involving Craniofacial Structures |Favorite Table|Download (.pdf)
Table 177-1. Common Malformations
and Syndromes Involving Craniofacial Structures
with cleft lip and/or palate|
|Chromosome 22q11.2 deletion syndrome (Velocardiofacial syndrome, VCFS,
DiGeorge syndrome)||Robin sequence, cleft palate, small mouth, myopathic facies, retrognathia,
prominent nose with squared-off nasal tip, hypoplastic nasal alae,
cardiac anomalies, learning disability, behavioral/psychiatric
disorders, short stature, slender tapering digits, immunodeficiencies||AD||192430||Microdeletion of chromosomal region containing multiple genes|
|Robin sequence||Micrognathia, cleft palate, glossoptosis, airway obstruction,
feeding difficulties||Sporadic; Mendelian inheritance in some families||261800|
|Stickler syndrome (type I, II, & III)||Cleft palate, micrognathia, glossoptosis, severe myopia, risk
of retinal detachment, midfacial hypoplasia, hearing impairment,
arthropathy, pectus, short 4thand 5th metacarpals ||AD||180300; 604841; 184840||Collagen gene mutations (COL2A1, COL11A1, COL11A2)|
|IRF6-related disorders (Includes Van der Woude and Popiteal
Pterygium syndromes)||Cleft lip and/or palate, lower lip pits/cysts,
ankyloglossia. PPS includes cleft lip and/or palate, fistulae
of the lower lip, popliteal pterygia, bifid scrotum/cryptorchidism, syndactyly
of fingers and/or toes, and abnormalities of the skin around
the nails, syngnathia or ankyloblepharon||AD||119300; 119500; 607199||Interferon regulatory factor 6 (IRF6)|
|Smith-Lemli-Opitz syndrome (See Chap. 164)||Cleft palate, micrognathia, short nose, ptosis, high square forehead,
microcephaly, hypospadias, cryptorchidism, VSD, TOF, hypotonia,
mental retardation, postaxial polydactyly, 2-3 toe syndactyly, defect
in cholesterol biosynthesis||AR||270400||Delta-7-reductase (DHCR7)|
|CHARGE syndrome||Coloboma of the eye, heart malformations, atresia
(choanal), retardation, genital anomalies, ear
abnormalities and/or deafness, facial palsy, cleft palate,
dysphagia||AD||214800||Chromodomain helicase DNA-binding protein (CHD7), semaphorin-3E (SEMA3E)|
|Ectrodactyly ectodermal dysplasia and clefting syndrome (EEC1;
EEC2)||Cleft lip ...|
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