Holoprosencephaly

Holoprosencephaly (HPE) is a complex brain malformation resulting from incomplete cleavage of the prosencephalon, occurring between the 18th and 28th day of gestation, and affecting both the forebrain and face, which results in neurological manifestations and facial anomalies of variable severity.

Median cleft lip

A type of cleft lip presenting as a midline (median) gap in the upper lip.


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PMID (PMCID)
20509764
 FEMALE Infant
A rare case of proboscis lateralis with median cleft lip.
Sakamoto Y, Nakajima T, Miyamoto J.
Cleft Palate Craniofac J. 2010;47(5):553-6.
This case is different from previously reported cases due to proboscis lateralis, single nostril, loss of columella, and median cleft lip without holoprosencephaly.
9262780
 MALE Infant
A unilateral cleft lip patient with holoprosencephaly.
Yonehara Y, Takato T, Komori T.
Ann Plast Surg. 1997;39(2):210-2.
Holoprosencephaly includes a spectrum of conditions that have in common the associated anomalies of false median cleft lip, nasal malformation, orbital hypotelorism, and brain malformations.
8010349
 MIXED_SAMPLE Infant, Newborn
Further delineation of pseudotrisomy 13 syndrome: a case without polydactyly.
Ramos-Arroyo MA, de Miguel C, Valiente A, Moreno-Laguna S.
Am J Med Genet. 1994;50(2):177-9.
We report on a baby with holoprosencephaly, median cleft lip, cardiac and genital anomalies, normal upper limbs, and a 46,XX karyotype.
8459121
 MIXED_SAMPLE Infant, Newborn
Median cleft lip without holoprosencephaly. Case report.
van der Wal KG, Wiebe Mulder J.
Int J Oral Maxillofac Surg. 1993;22(1):39-41.
The importance of this cannot be overemphasized because median cleft lip is commonly associated with holoprosencephaly and severe microcephaly.
8459121
 MIXED_SAMPLE Infant, Newborn
Median cleft lip without holoprosencephaly. Case report.
van der Wal KG, Wiebe Mulder J.
Int J Oral Maxillofac Surg. 1993;22(1):39-41.
Median cleft lip without holoprosencephaly.
2592577
 FEMALE Infant, Newborn
Single stage repair of the median cleft lip deformity in holoprosencephaly.
Sadove AM, Eppley BL, DeMyer W.
J Craniomaxillofac Surg. 1989;17(8):363-6.
A single stage repair of the median cleft lip in holoprosencephaly is presented.
2592577
 FEMALE Infant, Newborn
Single stage repair of the median cleft lip deformity in holoprosencephaly.
Sadove AM, Eppley BL, DeMyer W.
J Craniomaxillofac Surg. 1989;17(8):363-6.
Single stage repair of the median cleft lip deformity in holoprosencephaly.
3078619
 FEMALE Child
A rare patient with a false median cleft lip associated with multiple congenital anomalies.
Ohtsuka H.
Ann Plast Surg. 1986;17(2):155-60.
A girl manifesting a false median cleft lip associated with hypertelorism, anophthalmos, hydranencephaly with holoprosencephaly, and osteogenesis imperfecta, among other disorders, survived and was fed mainly milk products up to the age of 11.