Results 121 to 130 of about 11,012 (235)

Pseudo-trisomy 13 in a fetus: further support for autosomal recessive inheritance

The Turkish Journal of Pediatrics, 2008
Pseudo-trisomy 13 is defined in chromosomally normal patients with holoprosencephaly and associating features suggestive of trisomy 13. An autosomal recessive pattern of inheritance for this situation is most likely, but a gene for this condition ...
G Eda Utine, Yasemin Alanay, Dilek Aktaş, Beril Talim, Gülsev Kale, Ergül Tunçbilek   +5 more
doaj  

SEVERE SEMILOBAR HOLOPROSENCEPHALY AND LISSENCEPHALY ASSOCIATED WITH CEBOCEPHALY IN A NEWBORN

, 2012
Severe semilobar holoprosencephaly and lissencephaly associated with cebocephaly in a newborn: Holoprosencephaly is frequently accompanied by midline facial abnormalities such as hypotelorism, cyclopia, etmocephaly and cebocephaly.
Yurttutan, N., Oguz, S. S., Yurttutan, S., Dilmen, U., Canpolat, F. E., Oncel, M. Y., Ozdemir, R., Erdeve, O.   +7 more
core  

Holoprosencephaly

Neurologia medico-chirurgica, 1978
OSAKA, Kunihiko, TANIMURA, Takashi, YAMASAKI, Shun, HIRAYAMA, Akihiko, FUJITA, Katsuzo, MATSUMOTO, Satoshi   +5 more
openaire   +3 more sources

Detailed Analysis of Fetal Malformations of the Supratentorial Structures of the Brain in High-Risk Pregnancies at 12–14 Gestational Weeks by Transvaginal 3D Ultrasound Examination

Ultrasound International Open
Purpose  To detect sonographic abnormalities of the supratentorial structures of the brain – future cavum septum pellucidum, cavum velum interpositum, third ventricle, ganglionic eminence and thalamus ...
Reinhard Altmann, Iris Scharnreitner, Sabine Enengl, Patrick Stelzl, Peter Oppelt, Elisabeth Reiter   +5 more
doaj   +1 more source

Holoprosencephaly manifesting with fusion of the gyri cinguli

, 1998
In this paper we report a 7-month-old boy with lobar holoprosencephaly in whom midline interhemispheric fusion occured between thickened gyri cinguli of both hemispheres at the middle frontal region, This anomaly appears to be a variation of a recently ...
Sener, RN
core  

Holoprosencephaly.

Journal of postgraduate medicine, 2003
no ...
N. Thomas, A. Cherian, S. Sridhar
openaire   +1 more source

Phenotypic discordance in semilobar holoprosencephaly: a case report of total arhinia and median clefting linked to gestational diabetes. [PDF]

Ann Med Surg (Lond)
Chhetri J, Chhetri R.
europepmc   +1 more source

A case of early diagnosis of alobar holoprosencephaly from Pakistan: importance of prompt prenatal imaging. [PDF]

J Med Case Rep
Qazi R, Liaquat A, Qazi QUA, Tariq B, Usmani SUR.   +4 more
europepmc   +1 more source

Recent advances in understanding inheritance of holoprosencephaly

American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2018
C. Dubourg, Artem Kim, E. Watrin, M. de Tayrac, S. Odent, V. David, V. Dupé   +6 more
semanticscholar   +1 more source

Middle Interhemispheric Variant of Holoprosencephaly With Septo-Optic Dysplasia: A Rare Association. [PDF]

Cureus
Luce JR, Tran J, Shah C.
europepmc   +1 more source