Edit concept Question Editor Create issue ticket

Martinez-Frias Syndrome

Martinez Frias Syndrome


Presentation

  • We report on a newborn from consanguineous parents who presented with multiple congenital anomalies and neonatal hemochromatosis.[ncbi.nlm.nih.gov]
  • The unusual presentation of both hyper- and hypoglycemia was in direct relation to parenteral nutrition versus enteral intake, respectively.[nature.com]
  • Elsevier Health Sciences, ٣١‏/٠١‏/٢٠١٤ - 992 من الصفحات Acclaimed for its unsurpassed readability and manageable scope, Ashcraft’s Pediatric Surgery presents authoritative, practical guidance on treating the entire range of general surgical and urological[books.google.com]
  • Of special value is the thorax and various conditions that exhibit that sign. presentation of variability of the condition with age.[books.google.de]
  • We present one girl with this condition who was succesfully transplanted. Case report: Female neonatal infant weighing 2200 g, 35 weeks of gestational age, with intrauterine growth retardation, and Spanish consanguineous gypsy parents.[journals.lww.com]
Hypersomnia
  • The editors and contributing authors are internationally recognized authorities who cover everything from sleep and ADHD, headaches, restless leg syndrome, parasomnias, hypersomnias, autism, brain tumors, epilepsy, traumatic brain injury, and other primary[books.google.de]
Sepsis
  • Although surgery was uneventful, she developed refractory diabetes and pancreatic exocrine insufficiency, requiring parenteral nutrition for months with growth delay and multiple sepsis due to central line infections (12 episodes).[journals.lww.com]
  • The child was referred to Medical College Hospital for suspected sepsis with jaundice on the 3 rd day of postnatal age. On admission, total bilirubin was 21 mg/dl with conjugated bilirubin of 2.7 mg/dl.[jcnonweb.com]
Splenectomy
  • Hone and expand your surgical skills by watching videos of minimally invasive procedures for recto urethral fistula, biliary atresia, laparoscopic splenectomy, uterine horn, and more.[books.google.com]
Weight Loss
  • By the 3rd week of life, weight loss was observed with both enteral and parenteral nutrition. Medium chain triglyceride oil and pancreatic enzymes were added to compensate for presumed liver and/or pancreatic dysfunction, with minimal response.[nature.com]
Intestinal Atresia
  • […] midline developmental duodenal-biliary-pancreatic junction References Neonatal hemochromatosis and Martinez-Frias syndrome of intestinal atresia and diabetes mellitus in a consanguineous newborn.[humpath.com]
  • The syndrome consisted of intra-uterine growth retardation, intestinal atresia, gallbladder aplasia and diabetes mellitus, and fitted with the diagnosis of Martinez-Frias syndrome, a very rare autosomal recessive phenotype, the gene of which remains to[ncbi.nlm.nih.gov]
  • A further example of a distinctive autosomal recessive syndrome comprising neonatal diabetes mellitus, intestinal atresias and gall bladder agenesis . Am J Med Genet A 2008; 146A : 1713–1717. 6.[nature.com]
  • The most frequent patterns are hypoplastic pancreas, intestinal atresia and gallbladder aplasia/hipoplasia, probably due to a midline disorder affecting the development of the duodenal-biliary-pancreatic junction.[journals.lww.com]
  • Atresia, And Gallbladder Aplasia Or Hypoplasia, With Or Without Tracheoesophageal Fistula 601346 Genetic Test Registry Microphthalmia, Syndromic 3 Aeg Syndrome Anophthalmia, Clinical, With Associated Anomalies Anophthalmia-Esophageal-Genital Syndrome[ukgtn.nhs.uk]
Restless Legs Syndrome
  • The editors and contributing authors are internationally recognized authorities who cover everything from sleep and ADHD, headaches, restless leg syndrome, parasomnias, hypersomnias, autism, brain tumors, epilepsy, traumatic brain injury, and other primary[books.google.de]
Short Neck
  • Overview A syndrome characterised by multiple abnormalities Symptoms - Urioste Martinez-Frias syndrome Hepatocellular liver disease Ectopic testes Short neck Undescended testes Genital abnormalities Causes - Urioste Martinez-Frias syndrome Not supplied[checkorphan.org]
Renal Insufficiency
  • Due to renal insufficiency and hypertension, conversion to Sirolimus was decided one year after transplantation, first combined with Tacrolimus, and later as monotherapy.[journals.lww.com]
  • This abnormality is associated with progressive renal insufficiency needing dialysis and transplantation; hence, early diagnosis is critical.[retinatoday.com]
Headache
  • The editors and contributing authors are internationally recognized authorities who cover everything from sleep and ADHD, headaches, restless leg syndrome, parasomnias, hypersomnias, autism, brain tumors, epilepsy, traumatic brain injury, and other primary[books.google.de]

Workup

  • JUL 2001; 22 (4) : 501-505 Vanzieleghem-BD; Lemmerling-MM; Vermeersch-HF; Govaert-P; Dhooge-I; Meire-F; Mortier-GR; Leroy-J; Kunnen-MF Imaging studies in the diagnostic workup of neonatal nasal obstruction JOURNAL-OF-COMPUTER-ASSISTED-TOMOGRAPHY.[malattierare.regione.veneto.it]
  • The diagnosis of coloboma by an ophthalmologist should prompt a careful systemic workup and family history. Support provided by the Eye Tumor Research Foundation, Philadelphia, PA (CLS). The authors have no financial interests to disclose.[retinatoday.com]
Liver Biopsy
  • Hepatic siderosis, cholestasis and severe anemia have been reported in previous cases of MFS and are seen in our patient. 6 , 3 , 11 While the patient mentioned by Martinovici et al , 6 had siderosis on liver biopsy, the other reports did not have iron[nature.com]
  • Liver biopsy could not be done due to lack of parental consent. Blood culture was negative. As there was early-onset liver failure, neonatal hemochromatosis (NH) was suspected.[jcnonweb.com]

Treatment

  • Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout.[books.google.com]
  • Stay at the forefront of your field with updated treatment methods throughout, as well as an increased focus on patients with skin of color.[books.google.com]
  • Sleep in Childhood Neurological Disorders features Dedicated focus on neurologically-based sleep disorders in children Diagnostic tables, key points, clinical pearls, and treatment algorithms throughout to enhance clinical utility Directions for "Future[books.google.de]
  • Treatment - Urioste Martinez-Frias syndrome Not supplied. Resources - Urioste Martinez-Frias syndrome Not supplied.[checkorphan.org]

Prognosis

  • Mitchell-Riley syndrome/Martinez-Frias syndrome (MRS/MFS) is a rare, autosomal recessive disorder with multisystem involvement and poor prognosis.[ncbi.nlm.nih.gov]
  • Prognosis - Urioste Martinez-Frias syndrome Not supplied. Treatment - Urioste Martinez-Frias syndrome Not supplied. Resources - Urioste Martinez-Frias syndrome Not supplied.[checkorphan.org]
  • There are few cases described in the literature, all with poor prognosis, mainly due to the progression of the liver disease. We present one girl with this condition who was succesfully transplanted.[journals.lww.com]
  • Management is thus suboptimal and ABS prognosis remains poor.[ispub.com]
  • Abstract Mitchell–Riley syndrome/Martinez–Frias syndrome (MRS/MFS) is a rare, autosomal recessive disorder with multisystem involvement and poor prognosis.[nature.com]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • AND PATHOPHYSIOLOGY Unclear and controversial etiology.[mhmedical.com]
  • Subclavian artery supply disruption sequence: Hypothesis of a vascular etiology for Poland, Klippel-Feil, and Möbius anomalies. J Med Genet, 23, 903-918. Bonar, B.E. & Owens, R.W. (1929). Bilateral congenital facial paralysis.[moebius-syndrom.de]
  • Therefore, etiological studies of large numbers of MRKH syndrome patients of different races are urgently needed.[journals.plos.org]
  • Etiology The genetic etiology of KS was not elucidated until 2010. At this time, Ng SB et al. [6] reported that heterozygous mutations in KMT2D are the major genetic cause of KS.[eyewiki.aao.org]

Epidemiology

  • Some epidemiological aspects of Down’s Syndrome in British Columbia. Br J Prev Soc Med 1968;22:81-5. [6] Morris R. Down’s Syndrome in New Zealand.[stephengread.co.uk]
  • , Epidemiology , 1996, vol. 7 (pg. 507-512) 68 Krapels IP, Raijmakers–Eichhorn J, Peters WH, Roelofs HM, Ras F, Steegers–Theunissen RP.[zanascutecel.ro]
  • Fraser syndrome: epidemiological study in a European population. Am J Med Genet A. 2013;161A(5):1012-8.[npeu.ox.ac.uk]
  • Ectopia cordis, midline defects and chromosomal abnormalities: An epidemiologic perspective. American Journal of Medical Genetics, 30, 811-817 Martinez-Frias, M.L., Urioste, M., Cereijo, A. & Rodriguez-Pinilla, E. (1992).[down-syndrome.org]
  • Br J Dermatol , 154(4):791-2 [ CR ] [ EČ ][ GS ] Martínez-Frías, M.L. (1997) Epidemiological characteristics of amniotic band sequence (ABS) and body wall complex (BWC): Are they two different entities?.[scindeks.ceon.rs]
Sex distribution
Age distribution

Pathophysiology

  • , but may have multifactorial inheritance pattern Occurs in all ethnic groups equally 1 Affects males and females equally Lack of large studies, but incidence postulated at 1 in 100,000 live births 2 Most commonly diagnosed in childhood ETIOLOGY AND PATHOPHYSIOLOGY[mhmedical.com]
  • Pathophysiological effects of Möbius syndrome on speech and hearing. Arch Otolaryngol, 105, 29-35. Kalverboer, A., le Coultre, R., Casaer, P. (1970). Implications of congenital ophthalmoplegia for the development of visuo-motor functions.[moebius-syndrom.de]

Prevention

  • Prevention - Urioste Martinez-Frias syndrome Not supplied. Diagnosis - Urioste Martinez-Frias syndrome The signs and symptom information on this page attempts to provide a list of some possible signs and symptoms of Urioste Martinez-Frias syndrome.[checkorphan.org]
  • PRAMS 2002 Surveillance ReportAtlanta, GADivision of Reproductive Health National Center for Chronic Disease Prevention and Health Promotion, Centers for Disease Control and Prevention, 2006. . 129 Shah NR, Bracken MB.[zanascutecel.ro]
  • All affected infants with short-rib polydactyly syndrome have severe pulmonary hypoplasia that prevents extrauterine survival. Chromosomes are usually normal. Genes responsible for these conditions have not yet been identified.[mhmedical.com]
  • For example, prior to more extensive therapy, appropriate lubricants (e.g., eyedrops) and/or other supportive techniques may be used to help prevent, correct, or ease eye irritation and dryness.[rarediseases.org]
  • His team provided Khaled with complex IV nutrition, maintained his fluid balance, worked with pediatric endocrinology colleagues to manage his diabetes and ensured his lines were clean to prevent infection.[consultqd.clevelandclinic.org]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!