(Patent ductus arteriosus-facial dysmorphism-fifth finger abnormalities)
Incidence: < 1/1.106. In 50 % of cases, de novo mutation or autosomal dominant transmission of a mutation of the TFAP2B gene (6p12.3), coding for a transcription factor at the level of the neural crest cells. Association of a patent ductus arteriosus, facial dysmorphism and hand abnormalities.
Features of the face include:
- flattened midface: midfacial hypoplasia
- flat nasal bridge at its root
- hypertelorism with downslanting palpebral fissures, mild ptosis
- short philtrum, triangular mouth, and thick, prominent lips.
Hand abnormalities correspond to aplasia or hypoplasia of the middle phalanges of the fifth fingers. They can also be only clinodactyly of the fifth finger, a common feature of many syndromes.
More rarely:
- other cardiac abnormalities: VSD or complex congenital anomalies;
- other abnormalities of the hands such as interstitial polydactyly, distal symphalangism of the fifth fingers (fusion of distal interphalangeal joints);
- supernumerary nipples
- abnormalities of the feet (fusion of interphalangeal joints or clinodactyly, interstitial polydactyly, syndactyly);
- strabismus; mild to moderate developmental delay;
- occipital protuberance,
- persistence of decidual teeth by absence of permanent teeth,
- sleepwalking
Anesthetic implications:
echocardiography; hypoplasia of the midface can result in obstructive sleep apnea, difficult mask ventilation and intubation.
References:
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Updated: November 2022