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Manouvrier Syndrome


Presentation

  • However, mental retardation has been present in all surviving patients.[en.wikipedia.org]
  • Malabsorbtion syndrome: clinical presentation, diagnostics and treatment. Consilium Medicum 2001; 1(3). 12. Ardatskaia M. D., Loginov V.A., Minushkin O.N.[gastro-j.ru]
  • Genomic imbalances in patients with a clinical presentation in the spectrum of Cornelia de Lange syndrome. BMC Med Genet. 2013 Apr 3. 14:41. [Medline]. [Full Text]. Gil-Rodriguez MC, Deardorff MA, Ansari M, et al.[emedicine.medscape.com]
Failure to Thrive
  • Gastrointestinal abnormalities: a significant cause of feeding difficulties and failure to thrive in Brachmann-de Lange syndrome. Am J Med Genet. 1993 Nov 15. 47(7):1029-34. [Medline]. Deardorff MA, Yaeger DM, Krantz ID. Cornelia de Lange syndrome.[emedicine.medscape.com]
Heart Disease
  • The patient may have congenital heart disease. de Lange C. Sur un type nouveau de degeneration (typus amstelodamensis). Arch Med Enfants. 1933. 36:713-9. Brachmann W.[emedicine.medscape.com]
Hypertension
  • Significant health concerns like obesity, arterial hypertension, bronchopulmonary insufficiency, laryngotracheal stenosis, pericarditis and early death occurred in four.[ncbi.nlm.nih.gov]
Hypoplastic Nails
  • These authors listed corneal clouding, camptodactyly with hypoplastic nails, and abnormalities of the diaphragm as cardinal features.[en.wikipedia.org]
Skeletal Dysplasia
Joint Limitation
  • All patients displayed a typical facial gestalt, thickened skin, joint limitation and muscular pseudohypertrophy.[ncbi.nlm.nih.gov]
Broad Nasal Bridge
Compulsive Behavior
  • Self-injurious behavior, self-restraint, and compulsive behaviors in Cornelia de Lange syndrome. Am J Ment Retard. 2002. 107:146-54. [Medline]. Ireland M, Donnai D, Burn J. Brachmann-de Lange syndrome. Delineation of the clinical phenotype.[emedicine.medscape.com]
Behavior Problem
  • Growth retardation was common (68.7%) and was variable in severity (from -5.5 to -2 SD), as was mild-to-moderate intellectual deficiency (87.5%) with additional behavioral problems in 56.2% of the patients.[ncbi.nlm.nih.gov]
  • Background Cornelia de Lange syndrome (CdLS) is a syndrome of multiple congenital anomalies characterized by a distinctive facial appearance, prenatal and postnatal growth deficiency, feeding difficulties, psychomotor delay, behavioral problems, and associated[emedicine.medscape.com]

Workup

Gliosis
  • Histologically, 2 of 3 patients showed retinal dysplasia with rosettes and gliosis of the retina, thickness of the posterior capsule of the lens, and irregularities of Bowman membrane.[en.wikipedia.org]

Treatment

  • Malabsorbtion syndrome: clinical presentation, diagnostics and treatment. Consilium Medicum 2001; 1(3). 12. Ardatskaia M. D., Loginov V.A., Minushkin O.N.[gastro-j.ru]

Epidemiology

  • You can help by adding to it. ( October 2017 ) Epidemiology [ edit ] In France, Aymé, et al. (1989) estimated the prevalence of Fryns syndrome to be 0.7 per 10,000 births based on the diagnosis of 6 cases in a series of 112,276 consecutive births ( live[en.wikipedia.org]
  • Epidemiology Frequency The incidence is 1 case per 10,000-50,000 live births. No differences based on sex or race have been described.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology

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