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Quoted phrase not found in phrase index: "Short stature and microcephaly with genital anomalies"
Page 1
Solitary median maxillary central incisor (SMMCI) syndrome.
Hall RK. Hall RK. Orphanet J Rare Dis. 2006 Apr 9;1:12. doi: 10.1186/1750-1172-1-12. Orphanet J Rare Dis. 2006. PMID: 16722608 Free PMC article. Review.
Short stature is present in half the children. Diagnosis should be made by eight months of age, but can be made at birth and even prenatally at 18-22 weeks from the routine mid-trimester ultrasound scan. ...Short stature may require growth hormone ther …
Short stature is present in half the children. Diagnosis should be made by eight months of age, but can be made at birth and e …
ATRX has a critical and conserved role in mammalian sexual differentiation.
Huyhn K, Renfree MB, Graves JA, Pask AJ. Huyhn K, et al. BMC Dev Biol. 2011 Jun 14;11:39. doi: 10.1186/1471-213X-11-39. BMC Dev Biol. 2011. PMID: 21672208 Free PMC article.
The disease is characterised by severe mental retardation, mild alpha-thalassemia, microcephaly, short stature, facial, skeletal, genital and gonadal abnormalities. ...CONCLUSIONS: There is a complex expression pattern throughout development in …
The disease is characterised by severe mental retardation, mild alpha-thalassemia, microcephaly, short stature, facial, …
Effect of the size of the deletion and clinical manifestation in Wolf-Hirschhorn syndrome: analysis of 13 patients with a de novo deletion.
Wieczorek D, Krause M, Majewski F, Albrecht B, Horn D, Riess O, Gillessen-Kaesbach G. Wieczorek D, et al. Eur J Hum Genet. 2000 Jul;8(7):519-26. doi: 10.1038/sj.ejhg.5200498. Eur J Hum Genet. 2000. PMID: 10909852
We performed clinical, cytogenetic, and molecular analyses on 13 patients (8 females and 5 males, aged 6 months to 13 years) with Wolf-Hirschhorn syndrome due to de novo deletions of chromosome 4p. All patients presented with the typical facial gestalt, microcephaly, and p …
We performed clinical, cytogenetic, and molecular analyses on 13 patients (8 females and 5 males, aged 6 months to 13 years) with Wolf-Hirsc …
Microcephaly, seizures, genital hypoplasia, and abnormalities of the hands and feet in a 4-year-old boy with possible Wiedemann syndrome.
Wieczorek D, Gillessen-Kaesbach G, Plewa S, Passarge E. Wieczorek D, et al. Clin Genet. 1996 Feb;49(2):98-102. doi: 10.1111/j.1399-0004.1996.tb04337.x. Clin Genet. 1996. PMID: 8740922
We report on a 4-year-old boy with short stature, microcephaly, BNS (Blitz-Nick-Salaam) seizures, and global developmental delay. ...They reported three patients with a syndrome characterized by short stature, microcephaly, global develop …
We report on a 4-year-old boy with short stature, microcephaly, BNS (Blitz-Nick-Salaam) seizures, and global developmen …
Hypomelanosis of ITO. A study of 76 infantile cases.
Pascual-Castroviejo I, Roche C, Martinez-Bermejo A, Arcas J, Lopez-Martin V, Tendero A, Esquiroz JL, Pascual-Pascual SI. Pascual-Castroviejo I, et al. Brain Dev. 1998 Jan;20(1):36-43. doi: 10.1016/s0387-7604(97)00097-1. Brain Dev. 1998. PMID: 9533559
Twelve cases showed macrocephaly and coarse facies, six had microcephaly, and 14 showed hypotonia with pes valgus and genu valgus. Three cases of cerebellar hypoplasia, another of intracranial arteriovenous malformation and another of distal spinal muscular atrophy were …
Twelve cases showed macrocephaly and coarse facies, six had microcephaly, and 14 showed hypotonia with pes valgus and genu valgus. Th …
A novel truncating variant in ring finger protein 113A (RNF113A) confirms the association of this gene with X-linked trichothiodystrophy.
Mendelsohn BA, Beleford DT, Abu-El-Haija A, Alsaleh NS, Rahbeeni Z, Martin PM, Rego S, Huang A, Capodanno G, Shieh JT, Van Ziffle J, Risch N, Alkuraya FS, Slavotinek AM. Mendelsohn BA, et al. Am J Med Genet A. 2020 Mar;182(3):513-520. doi: 10.1002/ajmg.a.61450. Epub 2019 Dec 27. Am J Med Genet A. 2020. PMID: 31880405 Free PMC article.
Interestingly, the patient's mother had short stature and 100% skewed X-inactivation as seen in other obligate female carriers. A second male with developmental delays, microcephaly, seizures, ambiguous genitalia, and facial anomalies that inclu …
Interestingly, the patient's mother had short stature and 100% skewed X-inactivation as seen in other obligate female carriers …
Features of Feingold syndrome 1 dominate in subjects with 2p deletions including MYCN.
Burnside RD, Molinari S, Botti C, Brooks SS, Chung WK, Mehta L, Schwartz S, Papenhausen P. Burnside RD, et al. Am J Med Genet A. 2018 Sep;176(9):1956-1963. doi: 10.1002/ajmg.a.40355. Epub 2018 Aug 8. Am J Med Genet A. 2018. PMID: 30088856
Germline deletions and mutations of MYCN cause Feingold syndrome 1 (FS1), a rare disorder characterized by microcephaly, digit anomalies, gastrointestinal atresias, short stature, dysmorphic features, and intellectual disability. ...Other features o …
Germline deletions and mutations of MYCN cause Feingold syndrome 1 (FS1), a rare disorder characterized by microcephaly, digit ano …
Craniofacioskeletal syndrome: an X-linked dominant disorder with early lethality in males.
Stevenson RE, Brasington CK, Skinner C, Simensen RJ, Spence JE, Kesler S, Reiss AL, Schwartz CE. Stevenson RE, et al. Am J Med Genet A. 2007 Oct 1;143A(19):2321-9. doi: 10.1002/ajmg.a.31928. Am J Med Genet A. 2007. PMID: 17853486 Free PMC article.
A syndrome with multisystem manifestations has been observed in three generations of a Caucasian family. The findings in seven females provide a composite clinical picture of microcephaly, short stature, small retroverted ears, full tip of the nose ove …
A syndrome with multisystem manifestations has been observed in three generations of a Caucasian family. The findings in seven female …
An infant with ring 17 chromosome and unusual dermatoglyphs: a new syndrome?
Carpenter NJ, Leichtman LG, Stamper S, Say B. Carpenter NJ, et al. J Med Genet. 1981 Jun;18(3):234-6. doi: 10.1136/jmg.18.3.234. J Med Genet. 1981. PMID: 7241549 Free PMC article.
A case of ring 17 chromosome in a 5-month-old male infant is investigated and compared with five previously reported cases. The findings commonly observed in these patients include mental and motor retardation, seizures, short stature, muscular hypotonia, and …
A case of ring 17 chromosome in a 5-month-old male infant is investigated and compared with five previously reported cases. The findings com …