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Quoted phrase not found in phrase index: "Short stature with microcephaly and distinctive facies"
Page 1
Sleep disturbance in Mowat-Wilson syndrome.
Evans E, Mowat D, Wilson M, Einfeld S. Evans E, et al. Am J Med Genet A. 2016 Mar;170(3):654-60. doi: 10.1002/ajmg.a.37502. Epub 2015 Dec 21. Am J Med Genet A. 2016. PMID: 26686679
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome caused by a heterozygous mutation or deletion of the ZEB2 gene. It is characterized by a distinctive facial appearance in association with intellectual disability (ID) and variable other features includi …
Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome caused by a heterozygous mutation or deletion of the ZEB2 gene. It is …
Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki-like phenotype.
Usluer E, Sayın GY, Güneş N, Kasap B, Tüysüz B. Usluer E, et al. Am J Med Genet A. 2022 Oct;188(10):2976-2987. doi: 10.1002/ajmg.a.62944. Epub 2022 Aug 8. Am J Med Genet A. 2022. PMID: 36097644
Kabuki syndrome (KS) is a rare disorder characterized by distinct face, persistent fingertip pads, and intellectual disability (ID) caused by mutation in KMT2D (56%-76%) or KDM6A (5%-8%). ...The frequencies of facial features, cardiac and renal anomalies, short …
Kabuki syndrome (KS) is a rare disorder characterized by distinct face, persistent fingertip pads, and intellectual disability …
Growth, development, and phenotypic spectrum of individuals with deletions of 2q33.1 involving SATB2.
Zarate YA, Bosanko KA, Thomas MA, Miller DT, Cusmano-Ozog K, Martinez-Monseny A, Curry CJ, Graham JM Jr, Velsher L, Bekheirnia MR, Seidel V, Dedousis D, Mitchell AL, DiMarino AM, Riess A, Balasubramanian M, Fish JL, Caffrey AR, Fleischer N, Pierson TM, Lacro RV. Zarate YA, et al. Clin Genet. 2021 Apr;99(4):547-557. doi: 10.1111/cge.13912. Epub 2021 Jan 13. Clin Genet. 2021. PMID: 33381861 Free article. Review.

Individuals in the deltaSAS group were often underweight for age (20/41 = 49%) with a progressive decline in weight (95% CI = -2.3 to -1.1, p < 0.0001) and height (95% CI = -2.3 to -1.0, p < 0.0001) Z-score means from birth to last available measurement. deltaSAS ind

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Individuals in the deltaSAS group were often underweight for age (20/41 = 49%) with a progressive decline in weight (95% CI = -2.3 to -1.1, …
Failure of ossification of the occipital bone in mandibuloacral dysplasia type B.
Haye D, Dridi H, Levy J, Lambert V, Lambert M, Agha M, Adjimi F, Kohlhase J, Lipsker D, Verloes A. Haye D, et al. Am J Med Genet A. 2016 Oct;170(10):2750-5. doi: 10.1002/ajmg.a.37825. Epub 2016 Jul 13. Am J Med Genet A. 2016. PMID: 27410998
It is caused by mutations in ZMPSTE24, a gene encoding a zinc metalloproteinase involved in the post-translational modification of lamin. Nine distinct pathogenic variants have been identified in 11 patients from nine unrelated families with this disorder. ...The patient h …
It is caused by mutations in ZMPSTE24, a gene encoding a zinc metalloproteinase involved in the post-translational modification of lamin. Ni …
Short stature, microcephaly, characteristic face, syndactyly and mental retardation: the Filippi syndrome. Report on a second family.
Meinecke P. Meinecke P. Genet Couns. 1993;4(2):147-51. Genet Couns. 1993. PMID: 8395190
The patients, an 18-year-old boy and his 15-year-old sister, have pre and postnatal short stature, microcephaly, moderate to severe mental retardation, and cutaneous syndactylies of hands and feet. ...This observation confirms that this multiple congen …
The patients, an 18-year-old boy and his 15-year-old sister, have pre and postnatal short stature, microcephaly, modera …
Identification of a novel PCNT founder pathogenic variant in the Israeli Druze population.
Weiss K, Ekhilevitch N, Cohen L, Bratman-Morag S, Bello R, Martinez AF, Hadid Y, Shlush LI, Kurolap A, Paperna T, Mory A, Baris HN, Muenke M. Weiss K, et al. Eur J Med Genet. 2020 Feb;63(2):103643. doi: 10.1016/j.ejmg.2019.03.007. Epub 2019 Mar 25. Eur J Med Genet. 2020. PMID: 30922925
Majewski Osteodysplastic Primordial Dwarfism type II (MOPDII) is a form of dwarfism associated with severe microcephaly, characteristic skeletal findings, distinct dysmorphic features and increased risk for cerebral infarctions. ...Here we describe the …
Majewski Osteodysplastic Primordial Dwarfism type II (MOPDII) is a form of dwarfism associated with severe microcephaly …
A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B.
Alazami AM, Kentab AY, Faqeih E, Mohamed JY, Alkhalidi H, Hijazi H, Alkuraya FS. Alazami AM, et al. J Med Genet. 2015 Jun;52(6):400-4. doi: 10.1136/jmedgenet-2014-102964. Epub 2015 Mar 6. J Med Genet. 2015. PMID: 25748484
RESULTS: Two patients from two apparently unrelated families shared a strikingly similar phenotype characterised by KFA, myopathy, mild short stature, microcephaly, and distinctive facies. They shared a single founder autozygous interval in whic …
RESULTS: Two patients from two apparently unrelated families shared a strikingly similar phenotype characterised by KFA, myopathy, mild s …