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The infant presents with agnathia associated with cleft lip/palate, hypertelorism, and dysregulation of the sympathetic nervous system. Holoprosencephaly is associated with agenesis of the corpus callosum.

Dysgnathia Complex.

Agnathia-holoprosencephaly is a complex anomaly of the development of face and brain frequently associated with situs inversus and visceral anomalies.

Extremely rare (probably <20 cases have been described).

Agnathia-holoprosencephaly may be genetically determined as an autosomal recessive trait by a single recessive gene. Three reported cases had duplication of 6q and monosomy 18p.

Probably results from an inductive defect of the prechordal mesoderm or failure of migration of neural crest mesenchyme into the maxillary prominence during weeks 4 and 5 of gestation.

Agnathia-holoprosencephaly is a developmental field complex anomaly that affects the development of the face and brain and is frequently associated with situs inversus and visceral anomalies. At birth, the infant presents with agnathia and other craniofacial anomalies, such as cleft lip/palate, synotia (fusion of the ears in the midline below the chin), synophthalmia (cyclopia), or hypertelorism. Situs inversus must be ruled out. Magnetic resonance imaging (MRI) scans may demonstrate (alobar) holoprosencephaly with agenesis of the corpus callosum and other brain defects. Other anomalies may include visceral anomalies such as aglossia or microglossia, and microstomia, tracheoesophageal fistula, and congenital cardiac lesions. Prenatal ultrasound examination may reveal intrauterine growth retardation, agnathia (mandibular agenesis), or significant mandibular hypoplasia. Most patients do not survive the first year of life, but survival longer than 1 year has been described in isolated cases.

Neonates should be carefully evaluated for associated visceral abnormalities. In particular, congenital cardiac lesions should be ruled out by echocardiography. Mental and neurologic status must be assessed for a thoughtful approach to induction. Evaluate for signs of airway obstruction and difficult airway management because of agnathia and other facial defects. Difficult tracheal intubation must be anticipated when treating a child.

Because of difficult airway management, spontaneous breathing should be maintained until the airway is secured. Fiberoptic intubation may be required or, depending on the procedure, a laryngeal mask airway can be used. However, be aware that mouth opening of less than 1 cm has been described in several cases.

Anticholinergic drugs may assist in reducing secretions in cases of difficult airway management.

Ozden S, Bilgic R, Delikara N, et al: The sixth clinical report of a rare association: Agnathia-holoprosencephaly-situs inversus. Prenat Diagn 22:840, 2002.  [PubMed: 12224086]
Pauli RM, Pettersen JC, Arya S, et al: Familial agnathia-holoprosencephaly. Am J Med Genet 14:677, 1983.  [PubMed: 6846401]
Bixler D, Ward R, Gale DD: Agnathia-holoprosencephaly: A developmental field complex involving face and brain. Report of 3 cases. J Craniofac Genet Dev Biol Suppl 1:241, 1985.  [PubMed: 3932506]

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