[A case of multiple deformities: upper harelip, tubercles of the auricle, anus in vulva].
The case presented of a newborn with multiple deformities: preauricular tubercles, left auricular roof deformity, labicachisis of the right upper lip, dermoid-type swelling on the left eye, deep labial fold at the left commissure and "forked" anus in vulva. Though the combination does not exactly match any syndrome, it has various points in common with Goldenhar's syndrome, of which it might be a phenotype variant. The single cause of the malformations might be an early (microvascular) disturbance of the primary segments in growth areas surrounding the cephalic and caudal segments, first of the medullary plate and subsequently of the primary medullary canal.
Colombo
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Divisione Pediatria, Sezione Neonatologia, USSL n. 61, Carate, Milano.
Bianchi
G A
GA
D001003:Anal Canal / Q000002:abnormalities*; D005260:Female; D006053:Goldenhar Syndrome; D006130:Growth Disorders; D006801:Humans; D007231:Infant, Newborn; D008046:Lip / Q000002:abnormalities*; D014621:Vagina / Q000002:abnormalities*
Descrizione di un caso di associazione di più malformazioni: labioschisi, tubercoli preauricolari, ano in forchetta.