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]

• Hypoplastic Nails

  We report on a female newborn with holoprosencephaly, craniosynostosis, and multiple congenital anomalies including cloverleaf skull, Dandy-Walker malformation, bilateral microphthalmia, cleft soft palate, congenital scoliosis, hypoplastic nails and coarctation [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]

• Depressed Nasal Bridge

  As with previous reports Patients 1 and 2 (full siblings) have severe global developmental delay, gastroesophageal reflux disease, and minor dysmorphic features, including high palate, bitemporal narrowing, depressed nasal bridge, and micrognathia; Patient [ncbi.nlm.nih.gov]

[…] 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]

• Small Kidney

  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]

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]

They are: treatments extremely unlikely to be beneficial; beneficial treatments extremely costly; treatments of uncertain benefit. 3 In the specific case of children with multiple congenital anomalies, there are three major sources of uncertainties regarding [scielo.br]

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]

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]

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]

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]

Oxford: National Perinatal Epidemiology Unit; 2010. 12. Boyd PA, Rounding C, Kurinczuk JJ. Second Report of the Congenital Anomaly Register for Oxfordshire, Berkshire and Buckinghamshire (CAROBB) Births 2005 to 2008. [npmj.org]

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]

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]

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]