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Multiple Congenital Anomalies

MCA


Presentation

  • RESULTS: Fourteen patients (28%) had a global development delay whereas 36 (72%) patients presented intellectual disability. All patients presented multiple congenital abnormalities.[ncbi.nlm.nih.gov]
Ectomorph
  • We report here a paternally-inherited microduplication of 3p25.3 detected by array comparative genomic hybridisation (aCGH) in a 17 year-old male patient presenting with mental retardation and multiple congenital anomalies (MR/MCA), epilepsy and ectomorphic[ncbi.nlm.nih.gov]
Transient Hypothyroidism
  • At birth, he was small for gestational age and he had transient hypothyroidism which was detected in the newborn period. Karyotype analysis showed 46,XY.[ncbi.nlm.nih.gov]
Broad Nasal Bridge
  • We describe a male infant with intra-uterine growth retardation and multiple congenital anomalies including prominent forehead, broad nasal bridge, hypertelorism, small upturned nose, flat philtrum, micrognathia, cleft hard palate, low-set and posteriorly[ncbi.nlm.nih.gov]
Beak Nose
  • On admission the proband had micrognathia, beaked nose, hypospadias, caudal appendage and juxtaductal aorta coarctation. At birth, he was small for gestational age and he had transient hypothyroidism which was detected in the newborn period.[ncbi.nlm.nih.gov]
Large Anterior Fontanels
  • On clinical evaluation, she had craniofacial dysmorphic features such as scaphocephaly, large anterior fontanelle with open posterior fontanelle, prominent occiput, triangular face, high forehead, hypertelorism, down slanting eyes, flat nasal bridge,[ncbi.nlm.nih.gov]

Workup

  • […] hypoplasia (Goltz Syndrome), Poor weight gain, Multiple congenital anomalies, Goltz syndrome, Focal dermal hypoplasia, Rash, Congenital anomalies (multiple), Integumentary/Dermatology Video Features: Vitals & Demographics Differential Diagnosis & Patient Workup[reeldx.com]
Bilateral Small Kidneys
  • A newborn female presented with multiple congenital anomalies including facial dysmorphism, agenesis of the corpus callosum, type I laryngeal cleft, tracheal stenosis, bilaterally small kidneys, segmental vertebral anomalies, extranumerary rib, bilateral[ncbi.nlm.nih.gov]

Treatment

  • 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]
  • Although there is no specific treatment or cure for MLS syndrome, there may be ways to manage the symptoms. A team of doctors is often needed to figure out the treatment options based on each person ??s symptoms.[malacards.org]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]
  • A treatment program was planned after discussion with other clinics. The patient is currently under medical treatment and observation for other possible malfunctions (for mental retardation and hearing-speaking rehabilitation).[academic.oup.com]

Prognosis

  • Its prognosis is unknown and a long-term follow-up is essential for an early diagnosis of malignancy.[ncbi.nlm.nih.gov]
  • Uncertainties about prognosis The word prognosis, meaning a prediction, already holds the dimension of uncertainty.[scielo.br]
  • Prognosis The prognosis for any particular congenital anomaly, whether isolated or part of a sequence or syndrome, can vary greatly.[encyclopedia.com]
  • Furthermore, unrealistic counseling may be given about prognosis and recurrence risk. Only a few common MCA syndromes are life-threatening in the neonatal period.[accesspediatrics.mhmedical.com]
  • Prognosis depends on the specific etiology of the contractures. About the article Published Online : 2005-06-01 Published in Print : 2002-02-26 Citing Articles Here you can find all Crossref-listed publications in which this article is cited.[degruyter.com]

Etiology

  • DISCUSSION: Multiple factors have been described as etiological factors for ACC but the etiology is not clear yet. ACC may also be associated with some syndromes.[ncbi.nlm.nih.gov]

Epidemiology

  • The EUROCAT database of MCA cases will allow future investigation on the epidemiology of these conditions and related clinical and diagnostic problems. Copyright 2014 Wiley Periodicals, Inc.[ncbi.nlm.nih.gov]
  • Epidemiology of CHD is well-described. [2] , [10] , [11] , [12] However, we believe that changes with certain prenatal factors have altered the epidemiology of this patient population.[annalspc.com]
  • As a consequence, it is essential to have basic epidemiological information of these anomalies. Congenital anomaly rates can also used for planning health services.[afrjpaedsurg.org]
  • Genetic epidemiology and nonsyndromic structural birth defects: from candidate genes to epigenetics. JAMA pediatrics, 168(4), 371-377. Parker SE, Mai CT, Canfield MA, Rickard R, Wang Y, Meyer RE, Correa A (2010).[centogene.com]
Sex distribution
Age distribution

Pathophysiology

  • Identifying additional patients with similar copy losses and further study of these genes will contribute to a better understanding of the pathophysiology of multiple congenital anomalies.[ncbi.nlm.nih.gov]
  • Crossref PubMed Angelini P, Velasco JA, Flamm S, Coronary anomalies: incidence, pathophysiology, and clinical relevance, Circulation, 2002;105:2449–54. Crossref PubMed[ecrjournal.com]

Prevention

  • For correction of patellar tracking and prevention of bone deformities, surgical management should be performed.[ncbi.nlm.nih.gov]
  • Prevention Preventive public health measures work to decrease the frequency of certain congenital anomalies through the removal of risk factors or the reinforcement of protective factors.[who.int]
  • European Journal of Preventive Cardiology, 23(6): 657-667 [ EČ ][ GS ] Vernuccio, F., Grutta, G., Fazio, G. (2014) Sudden cardiac death in athletes: is it always not preventable?.[scindeks.ceon.rs]

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