Presentation
Therefore, the child presented with a complete chromosome 7 heterodisomy in blood. [nature.com]
Warkany's syndrome presents a wide phenotypic variability, as observed in a series of reported cases, in both the clinical presentation and cytogenetic analyses are variable. [colombiamedica.univalle.edu.co]
A thorough cardiac evaluation may be advised to detect any heart defects that may be present. [rarediseases.org]
The most likely explanation is that an extra copy of chromosome #21 was present in the egg or the sperm at the time of conception. [mosaicdownsyndrome.com]
Gastrointestinal
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Abdominal Distension
Because of repetitive bile vomiting, severe constipation and chronic abdominal distension, the child was readmitted and several rectal biopsies were performed. [nature.com]
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Constipation
Because of repetitive bile vomiting, severe constipation and chronic abdominal distension, the child was readmitted and several rectal biopsies were performed. [nature.com]
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Colic
They demonstrated alternately a paucity or absence of intramural ganglion cells of myenteric and submucosal plexuses in colic mucosa as well as in muscularis and ascertained the existence of HSCR. [nature.com]
Musculoskeletal
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Macrocephaly
At 13 months, postnatal growth retardation became obvious with weight of 6 kg ( 4 SD) and length of 67 cm ( 3 SD) and there was a relative macrocephaly with normal OFC (47 cm). The child had feeding difficulties and did not eat solids. [nature.com]
Face, Head & Neck
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Pointed Chin
Facial dysmorphy included a small triangular-shaped face with frontal bosses and narrow palpebral fissures, a small mouth with thin lips, a pointed chin and low posterior-rotated and overfolded ears. [nature.com]
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Thin Lips
Facial dysmorphy included a small triangular-shaped face with frontal bosses and narrow palpebral fissures, a small mouth with thin lips, a pointed chin and low posterior-rotated and overfolded ears. [nature.com]
Treatment
Treatment varies depending on associated symptoms, but typically requires a multidisciplinary team approach. [1] [2] Last updated: 5/24/2016 [rarediseases.info.nih.gov]
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
Standard Therapies Treatment The treatment of mosaic trisomy 9 is directed toward the specific symptoms that are apparent in each individual. [rarediseases.org]
At 5 years, facial dysmorphy persisted ( Figure 1 ) and growth hormone treatment, introduced at 3 years, showed good short-term results with height at 105 cm ( 1.5 SD). Figure 1 The patient at 5 years. [nature.com]
Prognosis
Mitotic nondisjunction appears to be more frequent, which would explain the mosaicism, lengthy survival and good clinical prognosis of these patients 5 - 8. [colombiamedica.univalle.edu.co]
Etiology
Hum Mol Genet 1995; 4 : 583–587. 16 Eggermann T, Wollmann HA, Kuner R et al : Molecular studies in 37 Silver–Russell syndrome patients: frequency and etiology of uniparental disomy. [nature.com]
Trisomy 9 mosaicism: another etiology for the manifestations of Goldenhar syndrome. J Craniofac Genet Dev Biol. 1983;3:313-16. Sanchez JM, et al. Report of a new case and clinical delineation of mosaic trisomy 9 syndrome. [rarediseases.org]