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Holoprosencephaly sequence.
Coletă E, Siminel M, Gheonea M. Coletă E, et al. Rom J Morphol Embryol. 2011;52(2):725-8. Rom J Morphol Embryol. 2011. PMID: 21655669 Free article.
Central nervous system anomalies.
Csabay L, Szabó I, Papp C, Tóth-Pál E, Papp Z. Csabay L, et al. Ann N Y Acad Sci. 1998 Jun 18;847:21-45. doi: 10.1111/j.1749-6632.1998.tb08924.x. Ann N Y Acad Sci. 1998. PMID: 9668696 Review.
The authors review the most common congenital anomalies of the central nervous system (CNS): neural tube defects (NTDs), ventriculomegaly/holoprosencephaly, hydranencephaly, holoprosencephaly sequence, iniencephaly, and microcephaly. They emphasize the importance of …
The authors review the most common congenital anomalies of the central nervous system (CNS): neural tube defects (NTDs), ventriculomegaly/ho …
Speculations on the pathogenesis of CHARGE syndrome.
Williams MS. Williams MS. Am J Med Genet A. 2005 Mar 15;133A(3):318-25. doi: 10.1002/ajmg.a.30561. Am J Med Genet A. 2005. PMID: 15637730
Given that critical developmental pathways must be robust and redundant in order to minimize errors, it may be that disruption of more than one gene is necessary to generate the CHARGE phenotype, as has been proposed for the holoprosencephaly sequence. Mutations and …
Given that critical developmental pathways must be robust and redundant in order to minimize errors, it may be that disruption of more than …
A Neonate Born with Holoprosencephaly Sequence of A Gestational Diabetic Mother: A Rare Case.
Afrin M, Chowdhury TI, Shams KL. Afrin M, et al. Mymensingh Med J. 2020 Oct;29(4):1010-1014. Mymensingh Med J. 2020. PMID: 33116110
After birth the infant was presented with multiple congenital anomalies (cleft lip, cleft palate, microphthalmia, absent philtrum, absent nasal septum with single naris) similar to holoprosencephaly sequence....
After birth the infant was presented with multiple congenital anomalies (cleft lip, cleft palate, microphthalmia, absent philtrum, absent na …
Syndromal hypothalamic hamartoblastoma with holoprosencephaly sequence, microphthalmia, pulmonary malformations, radial hypoplasia and mullerian regression: further delineation of a new syndrome?
Verloes A, Narcy F, Fallet-Bianco C. Verloes A, et al. Clin Dysmorphol. 1995 Jan;4(1):33-7. Clin Dysmorphol. 1995. PMID: 7735503
A 24-week-old fetus is described here with holoprosencephaly sequence (arhinencephaly and agenesis of the corpus callosum) associated with brain and meningeal dysplasia, microphthalmia with an ectopic pigmentary layer, hypothalamic hamartoblastoma, preaxial asymmetr …
A 24-week-old fetus is described here with holoprosencephaly sequence (arhinencephaly and agenesis of the corpus callosum) ass …
Congenital anomalies in the teratological collection of Museum Vrolik in Amsterdam, The Netherlands. III: primary field defects, sequences, and other complex anomalies.
Oostra RJ, Baljet B, Verbeeten BW, Hennekam RC. Oostra RJ, et al. Am J Med Genet. 1998 Oct 30;80(1):46-59. doi: 10.1002/(sici)1096-8628(19981102)80:1<46::aid-ajmg8>3.0.co;2-l. Am J Med Genet. 1998. PMID: 9800911
In 120 specimens the following midline anomalies, primary field defects, and sequences were diagnosed: holoprosencephaly sequence; aprosencephaly/atelencephaly; cleft lip; Pierre Robin sequence; omphalocele; diaphragmatic hernia; ectopic heart; bladder exstrophy; cl …
In 120 specimens the following midline anomalies, primary field defects, and sequences were diagnosed: holoprosencephaly sequence …
Misclassification risk of patients with bilateral cleft lip and palate and manifestations of median facial dysplasia: A new variant of del(22q11.2) syndrome?
Schulze BR, Tariverdian G, Komposch G, Stellzig A. Schulze BR, et al. Am J Med Genet. 2001 Apr 1;99(4):280-5. doi: 10.1002/ajmg.1178. Am J Med Genet. 2001. PMID: 11251993
The same craniofacial malformations are also described in patients with holoprosencephaly sequence (HPE-S). We report on two male patients with bilateral cleft lip and palate showing the facial findings of MFD or HPE-S. ...
The same craniofacial malformations are also described in patients with holoprosencephaly sequence (HPE-S). We report on two m …