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1993
2025

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1993 1
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Page 1
Coffin-Lowry syndrome: clinical and molecular features.
Hanauer A, Young ID. Hanauer A, et al. J Med Genet. 2002 Oct;39(10):705-13. doi: 10.1136/jmg.39.10.705. J Med Genet. 2002. PMID: 12362025 Free PMC article. Review.
The typical facial features consist of a prominent forehead, hypertelorism, a flat nasal bridge, downward sloping palpebral fissures, and a wide mouth with full lips. ...
The typical facial features consist of a prominent forehead, hypertelorism, a flat nasal bridge, downward sloping palpebral fi …
The proximal chromosome 14q microdeletion syndrome: delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature.
Torgyekes E, Shanske AL, Anyane-Yeboa K, Nahum O, Pirzadeh S, Blumfield E, Jobanputra V, Warburton D, Levy B. Torgyekes E, et al. Am J Med Genet A. 2011 Aug;155A(8):1884-96. doi: 10.1002/ajmg.a.34090. Epub 2011 Jul 8. Am J Med Genet A. 2011. PMID: 21744488 Review.
Both children had severe developmental delay, failure to thrive, microcephaly, and distinctive facial features, including abnormal spacing of the eyes, epicanthal folds, sloping forehead, low-set ears, rounded eyebrows with triangular media aspect and outer tapering …
Both children had severe developmental delay, failure to thrive, microcephaly, and distinctive facial features, including abnormal spacing o …
Prenatal diagnosis of fetal microhydranencephaly: a case report and literature review.
Omoto T, Takahashi T, Fujimori K, Kin S. Omoto T, et al. BMC Pregnancy Childbirth. 2020 Nov 11;20(1):688. doi: 10.1186/s12884-020-03400-1. BMC Pregnancy Childbirth. 2020. PMID: 33176733 Free PMC article. Review.
Three-dimensional computed tomography (CT) and magnetic resonance imaging (MRI) confirmed the presence of the fetal skull, a prominent occipital bone, sloping forehead, marked microcephaly, cerebral loss, and excess cerebrospinal fluid. This allowed differentiation …
Three-dimensional computed tomography (CT) and magnetic resonance imaging (MRI) confirmed the presence of the fetal skull, a prominent occip …
Norman-Roberts syndrome: clinical and molecular studies.
Iannetti P, Schwartz CE, Dietz-Band J, Light E, Timmerman J, Chessa L. Iannetti P, et al. Am J Med Genet. 1993 Aug 1;47(1):95-9. doi: 10.1002/ajmg.1320470120. Am J Med Genet. 1993. PMID: 8368261 Review.
We report on a 7-year-old boy with microcephaly, bitemporal hollowing, low sloping forehead, slightly prominent occiput, widely set eyes, broad and prominent nasal bridge, and severe postnatal growth deficiency. ...
We report on a 7-year-old boy with microcephaly, bitemporal hollowing, low sloping forehead, slightly prominent occiput, widel …
De novo 1q32q44 duplication and distal 1q trisomy syndrome.
Nowaczyk MJ, Bayani J, Freeman V, Watts J, Squire J, Xu J. Nowaczyk MJ, et al. Am J Med Genet A. 2003 Jul 15;120A(2):229-33. doi: 10.1002/ajmg.a.20028. Am J Med Genet A. 2003. PMID: 12833404 Review.
The baby, born at 37 weeks of gestation, had wide cranial sutures and large fontanelles, sloping forehead, hypertelorism, short and downward-slanting palpebral fissures, a high-arched and narrow palate, malformed ears, and long feet with overriding second and third …
The baby, born at 37 weeks of gestation, had wide cranial sutures and large fontanelles, sloping forehead, hypertelorism, shor …
Microcephaly, characteristic facies, joint abnormalities, and deficient leucocyte chemotaxis: a further case of the syndrome of Say et al.
Perandones C, Cerretini RI, Vargas Vera RM, Aranda EI, Alba LG, Pivetta OH. Perandones C, et al. J Med Genet. 1996 Mar;33(3):227-9. doi: 10.1136/jmg.33.3.227. J Med Genet. 1996. PMID: 8728697 Free PMC article. Review.
We report on a 13 year old boy with microcephaly, sloping forehead, prominent nose, scoliosis, and flexion contractures involving the elbows and knees. ...
We report on a 13 year old boy with microcephaly, sloping forehead, prominent nose, scoliosis, and flexion contractures involv …
Neu-Laxova syndrome: pathological evaluation of a fetus and review of the literature.
King JA, Gardner V, Chen H, Blackburn W. King JA, et al. Pediatr Pathol Lab Med. 1995 Jan-Feb;15(1):57-79. doi: 10.3109/15513819509026940. Pediatr Pathol Lab Med. 1995. PMID: 8736598 Review.
Neu-Laxova syndrome is a rare autosomal recessive disorder characterized by ichthyosis, intrauterine growth retardation, microcephaly, short neck, central nervous system abnormalities, hypoplastic or atelectatic lungs, limb deformities, edema, polyhydramnios, and short umbilical …
Neu-Laxova syndrome is a rare autosomal recessive disorder characterized by ichthyosis, intrauterine growth retardation, microcephaly, short …