A case study of amnion rupture sequence with acalvaria, blindness, and clefting: clinical and psychological profiles.
The purpose of this article is to report the case of a 10-year-old girl born with anophthalmia, bilateral oblique facial clefts, and missing scalp and bones over the temporal and parietal areas of the cranial vault bilaterally. Early amnion rupture seems to be the most probable cause of this rare combination of anomalies. Because no similar case has been reported in the literature so far, we describe here the clinical and psychosocial history of this unusual patient, who has been able to live the intellectually and socially normal life of a blind child in spite of the major craniofacial deformities. The already completed and possible future therapeutic strategies are discussed.
Hukki
Jyri
J
Cleft Palate and Craniofacial Center, Department of Plastic Surgery, Helsinki University Hospital, Helsinki, Finland. Jyri.Hukki@hus.fi
Balan
Polina
P
Ceponiene
Rita
R
Kantola-Sorsa
Elina
E
Saarinen
Pia
P
Wikstrom
Heidi
H
D000652:Amniotic Band Syndrome / Q000473:pathology / Q000523:psychology / Q000601:surgery*; D000853:Anophthalmos / Q000523:psychology; D001766:Blindness / Q000523:psychology; D002971:Cleft Lip / Q000523:psychology; D003071:Cognition; D019465:Craniofacial Abnormalities / Q000473:pathology / Q000523:psychology / Q000601:surgery*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D012535:Scalp / Q000601:surgery; D012886:Skull / Q000002:abnormalities / Q000601:surgery; D012917:Social Adjustment