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.

Micrognathia

Developmental hypoplasia of the mandible.


Total: 3

                       


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PMID (PMCID)
24605928
 FEMALE Infant, Newborn
Atypical expanded-spectrum hemifacial microsomia: a case report.
Magge KT, Kim J, Rogers GF, Oh AK.
Cleft Palate Craniofac J. 2015;52(2):240-5.
Her craniofacial findings include holoprosencephaly, cleft lip and palate, low set and posteriorly rotated ears, flat midfacial features, micrognathia, left HFM with grade 1 microtia, hypoplastic mandible, and a small preauricular pharyngeal arch remnant.
24783655
 FEMALE Infant, Newborn
A new case of holoprosencephaly-polydactyly syndrome with alobar holoprosencephaly, preaxial polydactyly and congenital glaucoma.
Sandal G, Tok L, Ormeci AR.
Genet Couns. 2014;25(1):49-52.
The case was also diagnosed as having holoprosencephaly-polydactyly syndrome (pseudotrisomy 13) because she had alobar holoprosencephaly, preaxial polydactyly, facial dysmorfism (hypotelorism, micrognathia, a flat rudimentary nose, high palate, thick dysplastic low-set ears) and normal karyotype.
9586550
 MIXED_SAMPLE Infant, Newborn
Prenatal diagnosis: evolution in craniofacial surgery.
De Ponte FS, Bottini DJ, Maggi E, Marchetti E, Cascone P, Iannetti G.
J Craniofac Surg. 1998;9(2):190-5.
We analyzed nine pregnancies (one twin) in which cleft lip and palate (CLP)--isolated or associated with, for example, holoprosencephaly, hypertelorism, and micrognathia--was diagnosed by ultrasonography.