| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Hanane Ait Hammou, Mariam Sennaoui, Fatimazahra Bouzid, Kenza Dafir, Meriem El Qabli, Hassan Akallakh, Maria Mansouri, Fadl Mrabih Rabou Maoulainine, Mohammed Bouskraoui, Nisrine Aboussai. Phenotypic and cytogenetic variability of patau syndrome in Morocco. African health sciences. vol 23. issue 4. 2024-07-08. PMID:38974285. |
the major clinical findings included: holoprosencephaly, microphthalmia and anophthalmia, coloboma of iris, cleft lip and palate, nasal and ear abnormalities, retrognathism and sloping forehead, polydactyly, capillary hemangiomas, omphalocele, congenital heart defect, renal abnormalities, cryptorchidism, language delay. |
2024-07-08 |
2024-07-11 |
Not clear |
| Angela Galeotti, Giovanni Carlo De Vincentiis, Emanuela Sitzia, Giuseppe Marzo, Wanda Maldonato, Gaia Bompiani, Maria Beatrice Chiarini Testa, Alessandra Putrino, Andrea Bartuli, Paola Fest. Use of an Orthodontic and Otolaryngological Approach in an Infant with Holoprosencephaly. Children (Basel, Switzerland). vol 11. issue 5. 2024-05-25. PMID:38790549. |
congenital nasal pyriform aperture stenosis (cnpas) is sometimes found in patients with mild forms of holoprosencephaly. |
2024-05-25 |
2024-05-27 |
human |
| M Afrin, T I Chowdhury, K L Sham. A Neonate Born with Holoprosencephaly Sequence of A Gestational Diabetic Mother: A Rare Case. Mymensingh medical journal : MMJ. vol 29. issue 4. 2020-10-30. 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. |
2020-10-30 |
2023-08-13 |
Not clear |
| Ivan Gonçalves de Almeida, Daniel Kanami Kuratani, Letícia Machado Gomes, Marilu Fiegenbaum, Elisa Pacheco Estima Correia, Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Ros. Nasal fistula, epidermal cyst and hypernatremia in a girl presenting holoprosencephaly due to a rare ZIC2 point mutation. European journal of medical genetics. vol 63. issue 2. 2020-10-05. PMID:30894326. |
we report on a patient with holoprosencephaly caused by a rare zic2 mutation presenting a bifid nose associated with a nasal fistula and an epidermal cyst, besides hypernatremia. |
2020-10-05 |
2023-08-13 |
Not clear |
| Ivan Gonçalves de Almeida, Daniel Kanami Kuratani, Letícia Machado Gomes, Marilu Fiegenbaum, Elisa Pacheco Estima Correia, Paulo Ricardo Gazzola Zen, Rafael Fabiano Machado Ros. Nasal fistula, epidermal cyst and hypernatremia in a girl presenting holoprosencephaly due to a rare ZIC2 point mutation. European journal of medical genetics. vol 63. issue 2. 2020-10-05. PMID:30894326. |
nasal fistula, epidermal cyst and hypernatremia in a girl presenting holoprosencephaly due to a rare zic2 point mutation. |
2020-10-05 |
2023-08-13 |
Not clear |
| Ozkan Ilhan, Yeliz Pekcevik, Sinem Akbay, Senem A Ozdemir, Seyma Memur, Berat Kanar, Ozgur Kirbiyik, Esra A Oze. Solitary median maxillary central incisor, holoprosencephaly and congenital nasal pyriform aperture stenosis in a premature infant: case report. Archivos argentinos de pediatria. vol 116. issue 1. 2019-08-01. PMID:29333838. |
solitary median maxillary central incisor syndrome is a rare disorder involving midline abnormalities such as holoprosencephaly, nasal cavity anomalies, cleft palate-lip, hypotelorism, microcephaly, and panhypopituitarism. |
2019-08-01 |
2023-08-13 |
Not clear |
| Ozkan Ilhan, Yeliz Pekcevik, Sinem Akbay, Senem A Ozdemir, Seyma Memur, Berat Kanar, Ozgur Kirbiyik, Esra A Oze. Solitary median maxillary central incisor, holoprosencephaly and congenital nasal pyriform aperture stenosis in a premature infant: case report. Archivos argentinos de pediatria. vol 116. issue 1. 2019-08-01. PMID:29333838. |
solitary median maxillary central incisor, holoprosencephaly and congenital nasal pyriform aperture stenosis in a premature infant: case report. |
2019-08-01 |
2023-08-13 |
Not clear |
| Ozkan Ilhan, Yeliz Pekcevik, Sinem Akbay, Senem A Ozdemir, Seyma Memur, Berat Kanar, Ozgur Kirbiyik, Esra A Oze. Solitary median maxillary central incisor, holoprosencephaly and congenital nasal pyriform aperture stenosis in a premature infant: case report. Archivos argentinos de pediatria. vol 116. issue 1. 2019-08-01. PMID:29333838. |
in this report, we present a newborn infant with solitary median maxillary central incisor syndrome accompanied by other abnormalities including holoprosencephaly, nasal pyriform aperture stenosis, microcephaly and panhypopituitarism. |
2019-08-01 |
2023-08-13 |
Not clear |
| Hiromi Aoi, Ming Lei, Takeshi Mizuguchi, Nobuko Nishioka, Tomohide Goto, Sahoko Miyama, Toshifumi Suzuki, Kazuhiro Iwama, Yuri Uchiyama, Satomi Mitsuhashi, Atsuo Itakura, Satoru Takeda, Naomichi Matsumot. Nonsense variants in STAG2 result in distinct sex-dependent phenotypes. Journal of human genetics. vol 64. issue 5. 2019-04-17. PMID:30765867. |
a male fetus (case 1) clinically presented with holoprosencephaly, cleft palate and lip, blepharophimosis, nasal bone absence, and hypolastic left heart by ultrasonography at 15 gestational weeks. |
2019-04-17 |
2023-08-13 |
Not clear |
| Berrin Tezcan, Foteini Emmanouella Bredak. Prenatal Diagnosis of Rare Familial Unbalanced Translocation of Chromosomes 7 and 12. Case reports in obstetrics and gynecology. vol 2015. 2015-08-21. PMID:26294991. |
ultrasonography findings included fetal microcephaly and alobar holoprosencephaly, dysmorphic face (flat occiput, absent nasal bone, microphthalmia, hypotelorism, and single nostril), and hyperechogenic bowel. |
2015-08-21 |
2023-08-13 |
Not clear |
| Clarice Pagani Savastano, Pricila Bernardi, Hector N Seuánez, Miguel Ângelo Martins Moreira, Iêda Maria Oriol. Rare nasal cleft in a patient with holoprosencephaly due to a mutation in the ZIC2 gene. Birth defects research. Part A, Clinical and molecular teratology. vol 100. issue 4. 2014-12-09. PMID:24677696. |
here we present a rare unilateral nasal cleft (tessier cleft n. 1) with holoprosencephaly in a patient with a zic2 mutation. |
2014-12-09 |
2023-08-12 |
Not clear |
| Clarice Pagani Savastano, Pricila Bernardi, Hector N Seuánez, Miguel Ângelo Martins Moreira, Iêda Maria Oriol. Rare nasal cleft in a patient with holoprosencephaly due to a mutation in the ZIC2 gene. Birth defects research. Part A, Clinical and molecular teratology. vol 100. issue 4. 2014-12-09. PMID:24677696. |
rare nasal cleft in a patient with holoprosencephaly due to a mutation in the zic2 gene. |
2014-12-09 |
2023-08-12 |
Not clear |
| Elena Coletă, Mirela Siminel, Mihaela Gheone. Holoprosencephaly sequence. Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie. vol 52. issue 2. 2011-09-28. PMID:21655669. |
this case report presents a male new born diagnosed with holoprosencephaly, accompanied by median cleft palate, absent nasal bones and chromosomal abnormalities. |
2011-09-28 |
2023-08-12 |
Not clear |
| Sevim Balci, Celal Tümer, Ciğdem Karaca, Oliver Bartsc. Familial ring (18) mosaicism in a 23-year-old young adult with 46,XY,r(18) (::p11→q21::)/46,XY karyotype, intellectual disability, motor retardation and single maxillary incisor and in his phenotypically normal mother, karyotype 47,XX,+r(18)(::p11→q21::)/46,XX. American journal of medical genetics. Part A. vol 155A. issue 5. 2011-08-01. PMID:21484996. |
we report on a 23-year-old man with craniofacial findings of the holoprosencephaly spectrum disorder (microcephaly, hypotelorism, depressed nasal bridge, single median maxillary central incisor), fusion of c2-c3 vertebrae, intellectual disability, and severe sleep apnea. |
2011-08-01 |
2023-08-12 |
Not clear |
| Lucilene Arilho Ribeiro, Jeffrey C Murray, Antonio Richieri-Cost. PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI. American journal of medical genetics. Part A. vol 140. issue 23. 2007-02-20. PMID:17001668. |
two patients had the same mutation (val908gly), but were phenotypically different: alobar holoprosencephaly, absent nasal septum, and midline cleft lip-palate in one case, and lobar holoprosencephaly, macrocephaly, hypertelorism, clefting of the nose, severe microphthalmia, and a single maxillary central incisor in the other. |
2007-02-20 |
2023-08-12 |
Not clear |
| José V Tagliarini, Victor Nakajima, Emanuel C Castilh. Congenital nasal pyriform aperture stenosis. Brazilian journal of otorhinolaryngology. vol 71. issue 2. 2006-07-10. PMID:16446925. |
initially this narrowest part of nasal airway was considered an isolated deformity; subsequently the congenital stenosis of pyriform aperture was thought to represent a microform of holoprosencephaly. |
2006-07-10 |
2023-08-12 |
Not clear |
| Olov Andersson, Eva Reissmann, Henrik Jörnvall, Carlos F Ibáñe. Synergistic interaction between Gdf1 and Nodal during anterior axis development. Developmental biology. vol 293. issue 2. 2006-07-10. PMID:16564040. |
consistent with these deficits, gdf1-/-;nodal+/- mutant embryos displayed a number of axial midline abnormalities, including holoprosencephaly, anterior head truncation, cleft lip, fused nasal cavity, and lack of jaws and tongue. |
2006-07-10 |
2023-08-12 |
mouse |
| Huai-Chih Yang, Shyh-Dar Shyur, Li-Hsin Huang, Yi-Chi Chang, Da-Chin Wen, Pei-Hsuan Liang, Mao-Tsair Li. DiGeorge syndrome associated with solitary median maxillary central incisor. Asian Pacific journal of allergy and immunology. vol 23. issue 2-3. 2006-03-21. PMID:16252847. |
a solitary median maxillary central incisor (smmci) is a rare dental anomaly which may be an isolated occurrence or associated with congenital nasal airway abnormalities or holoprosencephaly. |
2006-03-21 |
2023-08-12 |
Not clear |
| E Y T Chan, D K K Ng, A S F Chong, Y Hui, Y M F. Congenital nasal pyriform aperture stenosis with semilobar holoprosencephaly. International journal of pediatric otorhinolaryngology. vol 69. issue 1. 2005-05-19. PMID:15627454. |
we describe a child who has congenital nasal pyriform aperture stenosis with single maxillary central incisor, holoprosencephaly and central diabetes insipidus without any apparent anterior pituitary dysfunction. |
2005-05-19 |
2023-08-12 |
Not clear |
| E Y T Chan, D K K Ng, A S F Chong, Y Hui, Y M F. Congenital nasal pyriform aperture stenosis with semilobar holoprosencephaly. International journal of pediatric otorhinolaryngology. vol 69. issue 1. 2005-05-19. PMID:15627454. |
congenital nasal pyriform aperture stenosis with semilobar holoprosencephaly. |
2005-05-19 |
2023-08-12 |
Not clear |