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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1975 1
1983 1
1985 1
1987 6
1988 3
1989 7
1990 4
1991 1
1992 5
1993 4
1994 2
1995 8
1996 2
1997 6
1998 3
1999 6
2000 3
2001 6
2002 3
2003 2
2004 6
2005 5
2007 3
2008 2
2009 1
2010 2
2011 2
2012 2
2013 3
2014 2
2015 4
2016 5
2017 4
2018 5
2019 3
2020 1
2021 6
2022 3
2023 4
2024 3

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133 results

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Page 1
Leopard syndrome.
Sarkozy A, Digilio MC, Dallapiccola B. Sarkozy A, et al. Orphanet J Rare Dis. 2008 May 27;3:13. doi: 10.1186/1750-1172-3-13. Orphanet J Rare Dis. 2008. PMID: 18505544 Free PMC article. Review.
Facial dysmorphism includes ocular hypertelorism, palpebral ptosis and low-set ears. Stature is usually below the 25th centile. Cardiac defects, in particular hypertrophic cardiomyopathy mostly involving the left ventricle, and ECG anomalies are common. ...
Facial dysmorphism includes ocular hypertelorism, palpebral ptosis and low-set ears. Stature is usually below the 25th …
Jacobsen syndrome.
Mattina T, Perrotta CS, Grossfeld P. Mattina T, et al. Orphanet J Rare Dis. 2009 Mar 7;4:9. doi: 10.1186/1750-1172-4-9. Orphanet J Rare Dis. 2009. PMID: 19267933 Free PMC article. Review.
The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, sho …
The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial …
Noonan syndrome.
van der Burgt I. van der Burgt I. Orphanet J Rare Dis. 2007 Jan 14;2:4. doi: 10.1186/1750-1172-2-4. Orphanet J Rare Dis. 2007. PMID: 17222357 Free PMC article. Review.
The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hype …
The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated …
CHST14/D4ST1 deficiency: New form of Ehlers-Danlos syndrome.
Kosho T. Kosho T. Pediatr Int. 2016 Feb;58(2):88-99. doi: 10.1111/ped.12878. Pediatr Int. 2016. PMID: 26646600 Review.
Clinically, CHST14/D4ST1 deficiency is characterized by multiple congenital malformations (craniofacial features including large fontanelle, hypertelorism, short and downslanting palpebral fissures, blue sclerae, short nose with hypoplastic columella, low-set and ro …
Clinically, CHST14/D4ST1 deficiency is characterized by multiple congenital malformations (craniofacial features including large fontanelle, …
Teratogen update: methotrexate.
Hyoun SC, Običan SG, Scialli AR. Hyoun SC, et al. Birth Defects Res A Clin Mol Teratol. 2012 Apr;94(4):187-207. doi: 10.1002/bdra.23003. Epub 2012 Mar 20. Birth Defects Res A Clin Mol Teratol. 2012. PMID: 22434686 Review.
Based on human case reports of methotrexate exposure during pregnancy, a methotrexate embryopathy has been described that includes growth deficiency, microcephaly, hypoplasia of skull bones, wide fontanels, coronal or lambdoidal craniosynostosis, upswept frontal scalp hair, broad …
Based on human case reports of methotrexate exposure during pregnancy, a methotrexate embryopathy has been described that includes growth de …
Neuroimaging findings in Pallister-Killian syndrome.
Barkovich EJ, Lateef TM, Whitehead MT. Barkovich EJ, et al. Neuroradiol J. 2018 Aug;31(4):403-411. doi: 10.1177/1971400917744798. Epub 2017 Dec 20. Neuroradiol J. 2018. PMID: 29260614 Free PMC article. Review.
Clinically PKS is characterized by craniofacial dysmorphism with neonatal frontotemporal alopecia, hypertelorism, and low-set ears as well as kyphoscoliosis, severe intellectual disability, epilepsy, and abnormal muscle tone. ...
Clinically PKS is characterized by craniofacial dysmorphism with neonatal frontotemporal alopecia, hypertelorism, and low-set …
The 8p-syndrome.
Ostergaard GZ, Tommerup N. Ostergaard GZ, et al. Ann Genet. 1989;32(2):87-91. Ann Genet. 1989. PMID: 2667457 Review.
Reduced birth weight, growth and psychomotor retardation, craniofacial dysmorphism with microcephaly and low set, deformed ears, stubby nose, wide set nipples, congenital heart defect and undescended testes were the main clinical findings. ...
Reduced birth weight, growth and psychomotor retardation, craniofacial dysmorphism with microcephaly and low set, deformed …
ERCC6L2-associated inherited bone marrow failure syndrome.
Shabanova I, Cohen E, Cada M, Vincent A, Cohn RD, Dror Y. Shabanova I, et al. Mol Genet Genomic Med. 2018 May;6(3):463-468. doi: 10.1002/mgg3.388. Epub 2018 Apr 6. Mol Genet Genomic Med. 2018. PMID: 29633571 Free PMC article. Review.
Along with one other patient, our patient displayed craniofacial abnormalities by presenting with low-set prominent ears, a pointed prominent chin, and deep-set eyes. ...
Along with one other patient, our patient displayed craniofacial abnormalities by presenting with low-set prominent ears …
Expanding Genotype/Phenotype Correlation in 2p11.2-p12 Microdeletion Syndrome.
Ferrario A, Aliu N, Rieubland C, Vuilleumier S, Grabe HM, Escher P. Ferrario A, et al. Genes (Basel). 2023 Dec 16;14(12):2222. doi: 10.3390/genes14122222. Genes (Basel). 2023. PMID: 38137045 Free PMC article. Review.
He presents with facial dysmorphism characterized by a broad and low root of the nose and low-set protruding ears. Clinical examinations during follow-up visits revealed congenital pendular nystagmus, decreased visual acuity and psychomotor development disord …
He presents with facial dysmorphism characterized by a broad and low root of the nose and low-set protruding ears. Clin …
A very rare case of a newborn with tetrasomy 9p and literature review.
Süleyman M, Oğuz S, Kaykı G, Çelik HT, Şimsek-Kiper PÖ, Utine GE, Yiğit Ş. Süleyman M, et al. Turk J Pediatr. 2022;64(1):171-178. doi: 10.24953/turkjped.2021.685. Turk J Pediatr. 2022. PMID: 35286047 Free article. Review.
CASE: We report on a newborn with tetrasomy 9p who deceased in the newborn period. She had facial features including low-set and anteverted ears, hypertelorism, prominent nasal bridge, and microretrognathia. ...
CASE: We report on a newborn with tetrasomy 9p who deceased in the newborn period. She had facial features including low-set a …
133 results