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Year Number of Results
1946 2
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1954 3
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1957 1
1958 1
1959 2
1960 1
1961 2
1962 2
1963 4
1964 10
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1966 6
1967 9
1968 16
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1970 14
1971 18
1972 21
1973 22
1974 35
1975 52
1976 31
1977 45
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1979 50
1980 51
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1987 66
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1989 64
1990 78
1991 90
1992 68
1993 123
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1995 123
1996 129
1997 126
1998 119
1999 143
2000 150
2001 158
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2003 171
2004 172
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8,030 results

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Quoted phrase not found in phrase index: "Abnormality of the face"
Page 1
Ear Abnormalities.
Bhatti SL, Daly LT, Mejia M, Perlyn C. Bhatti SL, et al. Pediatr Rev. 2021 Apr;42(4):180-188. doi: 10.1542/pir.2019-0167. Pediatr Rev. 2021. PMID: 33795464
Congenital ear abnormalities present an aesthetic and psychosocial concern for pediatric patients and their parents. ...Ear deformations are characterized by ear anatomical landmarks that are present but are distorted or abnormal, with Stahl ear, constricted …
Congenital ear abnormalities present an aesthetic and psychosocial concern for pediatric patients and their parents. ...Ear de …
Diversity and dysmorphology.
Kruszka P, Tekendo-Ngongang C, Muenke M. Kruszka P, et al. Curr Opin Pediatr. 2019 Dec;31(6):702-707. doi: 10.1097/MOP.0000000000000816. Curr Opin Pediatr. 2019. PMID: 31693576 Review.
Recognizing patterns of dysmorphic features is a critical step in the diagnosis and management of human congenital anomalies and genetic syndromes. This review presents recent developments in genetic syndromes and their related dysmorphology in diverse populations. ...
Recognizing patterns of dysmorphic features is a critical step in the diagnosis and management of human congenital anomalies and gene …
The Noonan-CFC controversy.
Neri G, Zollino M, Reynolds JF. Neri G, et al. Am J Med Genet. 1991 Jun 1;39(3):367-70. doi: 10.1002/ajmg.1320390323. Am J Med Genet. 1991. PMID: 1867292
We review available clinical evidence to support the opposite view, namely, that the Noonan and CFC syndromes are indeed distinct and separate conditions, both falling within the broad and causally heterogeneous spectrum of the Noonan/congenital lymphedema phenotype....
We review available clinical evidence to support the opposite view, namely, that the Noonan and CFC syndromes are indeed distinct and separa …
Proboscis lateralis.
Martin S, Hogan E, Sorenson EP, Cohen-Gadol AA, Tubbs RS, Loukas M. Martin S, et al. Childs Nerv Syst. 2013 Jun;29(6):885-91. doi: 10.1007/s00381-012-1989-0. Epub 2013 Jan 25. Childs Nerv Syst. 2013. PMID: 23354442 Review.
INTRODUCTION: Proboscis lateralis is a rare congenitally acquired facial abnormality characterized by a soft-tissue tube- or trunk-like appendage projecting from the surface of the face, most frequently rooted in the medial canthal region. ...
INTRODUCTION: Proboscis lateralis is a rare congenitally acquired facial abnormality characterized by a soft-tissue tube- or trunk-li …
Neu Laxova syndrome.
Dwivedi T, Gosavi M. Dwivedi T, et al. Indian J Pathol Microbiol. 2019 Jan-Mar;62(1):149-152. doi: 10.4103/IJPM.IJPM_351_17. Indian J Pathol Microbiol. 2019. PMID: 30706883
NeuLaxova syndrome (NLS) is a rare congenital abnormality involving multiple systems. Until date, only 60 cases of this syndrome have been reported in the literature. ...The fetus was sent for pathological examination. At autopsy, fetus had ichthyosis over the scalp …
NeuLaxova syndrome (NLS) is a rare congenital abnormality involving multiple systems. Until date, only 60 cases of this syndro …
The human face: genes, embryological development and dysmorphology.
Bhat M. Bhat M. Int J Dev Biol. 2020;64(4-5-6):383-391. doi: 10.1387/ijdb.190312mb. Int J Dev Biol. 2020. PMID: 32658997 Free article. Review.
A description of specific dysmorphisms of various parts of the human face and key genetic and mechanistic pathways are discussed in this review. ...
A description of specific dysmorphisms of various parts of the human face and key genetic and mechanistic pathways are discussed in t …
Proboscis lateralis.
Lelli GJ Jr, Maher EA, Milite JP, Dyleski R. Lelli GJ Jr, et al. Ophthalmic Plast Reconstr Surg. 2008 Nov-Dec;24(6):499-501. doi: 10.1097/IOP.0b013e31818b6e57. Ophthalmic Plast Reconstr Surg. 2008. PMID: 19033859
An otherwise healthy 1-month-old female infant presented with a congenital nasal appendage in the left medial canthal region with associated left-sided nasal hypoplasia. ...A case report and review of proboscis lateralis is provided, as treatment of this rare congenital …
An otherwise healthy 1-month-old female infant presented with a congenital nasal appendage in the left medial canthal region with ass …
Coffin-Siris syndrome and epilepsy.
Curcio MR, Ferranti S, Lotti F, Grosso S. Curcio MR, et al. Neurol Sci. 2021 Feb;42(2):727-729. doi: 10.1007/s10072-020-04782-y. Epub 2020 Oct 2. Neurol Sci. 2021. PMID: 33006724
Coffin-Siris syndrome is a rare genetic disorder defined by the presence of particular facial traits, congenital malformations, intellectual disability, and speech impairment. ...
Coffin-Siris syndrome is a rare genetic disorder defined by the presence of particular facial traits, congenital malformations, intel …
MR Imaging of the Fetal Face: Comprehensive Review.
Nagarajan M, Sharbidre KG, Bhabad SH, Byrd SE. Nagarajan M, et al. Radiographics. 2018 May-Jun;38(3):962-980. doi: 10.1148/rg.2018170142. Epub 2018 Apr 13. Radiographics. 2018. PMID: 29652578 Review.
The human face is a complex anatomic structure with an equally complex embryologic development. ...The MR imaging features of various structural anomalies are described and classified into six groups, namely, orofacial clefts, orbital anomalies, nasal anomalies, facial mas …
The human face is a complex anatomic structure with an equally complex embryologic development. ...The MR imaging features of various …
8,030 results