Holoprosencephaly is a rare disorder of embryological development that presents with midline clefting of the lip. The incidence has been estimated at approximately 1 in 15,000. Previously, infants with severe holoprosencephaly were thought to die within 1–2 years of birth and seldom to benefit from surgery. Survival has increased with improved perinatal care and support services. Parents often request complete cheiloplasty, because the presence of a columella greatly influences aesthetic outcome. The authors report two cases of simultaneous columella reconstruction with cheiloplasty.
Median clefts of the lip are uncommon and often occur in the setting of more severe craniofacial abnormalities . Holoprosencephaly is a rare disorder of embryological development that presents with midline clefting of the lip . Incidence has been estimated at approximately 1 in 15,000 . Most cases are not thought to be hereditary but some have associated chromosomal anomalies, the most common being trisomy 13 . Chromosomal abnormalities are associated with holoprosencephaly in approximately 25–50% of cases . These defects include hypotelorism, midface retrusion, median cleft and a narrow maxillary arch with apertognathia. The cranium is usually microcephalic and the bony defects are centred around the ethmoid bone . The nasal complex is hypoplastic with an absent or deficient columella, philtrum and/or prolabium. In most cases of holoprosencephaly, the foetus fails to survive to term, and those that do survive have severe functional limitations, including mental retardation. Infants with severe holoprosencephaly often die within 1–2 years of birth and are considered to benefit from surgery rarely . Generally cheiloplasty is performed using a simple Z-plasty method to close the upper lip cleft alone . The prognosis has recently improved with enhanced perinatal care, and most parents request cheiloplasty with complete reconstruction of the nostrils. The authors report two cases of simultaneous columella reconstruction with cheiloplasty.
An 11-month-old Japanese girl was referred with holoprosencephaly and median cleft lip. She was born at 39 weeks’ gestation to a 20-year-old mother. Birth weight was 2566 g. An obvious cleft of the midline facial structures was noted ( Fig. 1 ). Hypotelorism and nasal flattening were apparent. Computed tomography (CT) of the brain and chromosomal analysis resulted in a diagnosis of holoprosencephaly, ring chromosome 13 syndrome and false median cleft lip. The family history was unremarkable. When the infant was 15 months old, single-stage lip and nostril reconstruction was performed with no intraoperative or postoperative complications ( Fig. 2 ). Although the patient was progressing favourably, she died suddenly 2 years after surgery.
A 3-month-old Japanese boy was referred with holoprosencephaly and median cleft lip and palate. He was born at 41 weeks’ gestation to a 24-year-old mother. Birth weight was 2428 g. An obvious cleft of the midline facial structures was noted ( Fig. 3 ). Hypotelorism and nasal flattening were apparent. CT of the brain and chromosomal analysis led to a diagnosis of holoprosencephaly, ring chromosome 13 syndrome and false median cleft lip. The family history was unremarkable. A poor prognosis was anticipated because he could not regulate body temperature. His parents strongly requested repair of the cleft lip, so the authors performed single-stage lip and nostril reconstruction ( Fig. 4 ). There were no problems during or after the operation, but he died suddenly 2 years after surgery.