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At a glance

Congenital genetic disorder combining cleft palate, choanal atresia, hypothyroidism, and spiky hair.

Synonyms

Bamforth Syndrome; Congenital Hypothyroidism, Spiky Hair, and Cleft Palate Syndrome.

Incidence and genetic inheritance

Approximately 10 patients have been described. Autosomal recessive inherited defect that has been mapped to chromosome 9q22 and affects the FOXE1 (Forkhead Box E1) also known as TTF2 (Thyroid Transcription Factor 2) or formerly FKHL15 (Forkhead, Drosophila, Homolog-Like 15) gene which is, among other factors such as thyroid transcription factor 1, thyroid-stimulating hormone (TSH) receptor genes, and PAX-8 (Paired Box Gene 8), implicated in the early thyroid organogenesis. Parental consanguinity is considered a risk factor.

Clinical aspects

Three children, two siblings, and one single child showed neonatal respiratory distress, presumably from upper airway obstruction. Frequent facial features include bilateral partial or complete choanal atresia, cleft palate, bifid epiglottis, and micrognathia. Congenital hypothyroidism secondary to thyroid dysgenesis (typically athyreosis) may present with excessive sleepiness and poor feeding in the neonate or infant. Spiky hair is present already at birth. Mild developmental delay has been described in two and might have been related to hypothyroidism. Other possible features include polyhydramnios (in three cases) and porencephaly (one case). Congenital cardiac defects were reported in two patients but unfortunately not described in more detail.

Anesthetic considerations

Direct laryngoscopy and tracheal intubation may be difficult because of micrognathia and malformations of the palate and epiglottis. However, at least two children were intubated and mechanically ventilated and no difficulties with intubation were reported. Choanal atresia precludes nasal intubation and can be associated with marked respiratory distress in the neonatal period, and it requires surgical treatment. Two children had recurrent aspirations and poor feeding, possibly due to pharyngeal dysmotility. Chronic lung disease may be present secondary to chronic aspirations. These patients receive thyroid hormone replacement therapy, which when started early has been shown to allow for normal physical growth, pubertal development, and anterior pituitary function. However, despite adequate therapy, some patients remain to have short stature.

Pharmacological implications

Thyroid hormone replacement therapy should be continued in the perioperative period. One report presented a 3-month-old girl with prolonged paralysis (4 hours) after a single dose of mivacurium and was eventually found to have significantly decreased pseudocholinesterase deficiency, while all other family members had normal levels. An association between hypothyroidism and pseudocholinesterase deficiency has been reported.

References

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Bamforth  JS, Hughes  IA, Lazarus  JH,  et al: Congenital hypothyroidism, spiky hair, and cleft palate. J Med Genet 26:49–51, 1989.  [PubMed: 2918525]
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Brancaccio  A, Minichiello  A, Grachtchouk  M,  et al: Requirement of the forkhead gene FOXE 1, a target of sonic hedgehog signaling, in hair follicle morphogenesis. Hum Mol Genet 13:2595–2606, 2004.  [PubMed: 15367491]
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