The patient described in case 1 presented with hemifacial microsomia, microtia, atresic external auditory canal, agenesia of ossicles, crossed renal ectopia, bicuspid aorta, bilateral popliteal pterygium, agenesis of vertebra below D12 level, and corpus callosum hypoplasia.
Caption: FIGURE 1: The "frog-like" appearance of the infant due to popliteal pterygium.
However, it can be associated with several disorders such as trisomy 18 (Edward's syndrome), (7) Hay-Wells syndrome (a variant of the ectodactyly-ectodermal dysplasia-cleft lip palate syndrome), (8) popliteal pterygium
syndrome (characterised by intercrural webbing of the lower limbs), (9) CHANDS (curly hair-ankyloblepharon-nail dysplasia)(10) and cleft lip and palate.
Less than 40 cases of alveolar synechiae have been reported in literature.1,2 Although it may present in isolation with cleft palate, alveolar synechiae are usually associated with Van der Woude syndrome, oromandibular limb hypogenesis syndrome,3 microglossia, micrognathia and popliteal pterygium syndrome.4,5 The exact incidence of this condition is still unknown but the incidence of infantile congenital anomalies is approx.
It can be associated with cleft palate or syndromes like Vander de woude, Pierre robin sequence1 and popliteal pterygium syndrome.6 In this case there was no syndromic association.
Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene.
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes.
Genomic, cDNA and embryonic expression analysis of zebrafish IRF6, the gene mutated in the human oral clefting disorders Van der Woude and popliteal pterygium
syndrome (PPS) with intra-alveolar syngnathia: A discussion of anesthetic and surgical considerations.