The patient presented with persistent headaches and a 2-year history of progressive hand, arm, and face numbness. [thejns.org]

Low birth weight may be present. Other clinical features include retrognathia, a narrow face, and dysplastic ears. Mental retardation may also be present. It is inherited as an autosomal recessive transmission. [accessanesthesiology.mhmedical.com]

Standard Therapies Treatment Medical treatment for Seckel syndrome is based on the specific problems that are present in the affected child. [rarediseases.org]

The objective is to present two unrelated patients with a 10-year-old male and female patients with Meier Gorlin syndrome type 1, the latter being the second report in the Mexican population. [go.gale.com]

• Short Stature

  Although there is no universally accepted definition of short stature, many refer to "short stature" as height more than 2 standard deviations below the mean for age and gender (or below the 3rd percentile for age and gender dependent norms). [ncbi.nlm.nih.gov]

  Key words: Meier Gorlin Syndrome, "ear-knee-short stature" syndrome, ORC1 gene, 1p32, MGS Get Full Access Gale offers a variety of resources for education, lifelong learning, and academic research. [go.gale.com]

  It is characterised by proportional short stature, low birth weight, dysmorphic facial appearance, and mental retardation. [cambridge.org]

  Osteodysplastic Bird-Headed Dwarfism Type III (Osteodysplastic Primordial Dwarfism Type III): Characterized by short stature, microcephaly, and a “beak-like” nose. Retrognathia, a narrow face, receding forehead, and alopecia have been reported. [accessanesthesiology.mhmedical.com]

• Surgical Procedure

  The effected child died at the age of three years secondary to respiratory complications sustained under general anesthesia during a minor surgical procedure. [contemporaryobgyn.net]

• Cryptorchidism

  [from OMIM] From HPO Cryptorchidism MedGen UID: 8192 •Concept ID: C0010417 • Congenital Abnormality Cryptorchidism, or failure of testicular descent, is a common human congenital abnormality with a multifactorial etiology that likely reflects the involvement [ncbi.nlm.nih.gov]

  Males with Seckel syndrome may have testes that do not lower properly (cryptorchidism). Affected females may have a large clitoris (clitoromegaly). In addition, affected children may have increased body hair (hirsutism). [rarediseases.org]

The patient died 1 year later of complications related to treatment of a rapidly progressing intracranial aneurysm. This report documents the first case associating moyamoya and Seckel syndromes. [thejns.org]

Standard Therapies Treatment Medical treatment for Seckel syndrome is based on the specific problems that are present in the affected child. [rarediseases.org]

After etoposide treatment, both the total number of cells and the number of viable cells dropped in all cases. [journals.plos.org]

Alcohol abuse in pregnant women: effects on the fetus and newborn, mode of action and maternal treatment. Int J Environ Res Public Health. 2010;7(2):364–79. Article PubMed PubMed Central Google Scholar 4. Lenke RR, Levy HL. [link.springer.com]

PMID: 8182723Free PMC Article Prognosis Scalet D, Balestra D, Rohban S, Bovolenta M, Perrone D, Bernardi F, Campaner S, Pinotti M Biochim Biophys Acta Mol Basis Dis 2017 Jan;1863(1):15-20. Epub 2016 Sep 14 doi: 10.1016/j.bbadis.2016.09.011. [ncbi.nlm.nih.gov]

Discussion and conclusion: Recognizing and giving multidisciplinary follow-up will help to know the etiology of the disease, as well as its evolution, management and genetic counseling. [go.gale.com]

The authors concluded that WNT10A is a major gene in the etiology of isolated hypodontia. [ncbi.nlm.nih.gov]

Etiology[edit | edit source] Seckel Syndrome is a rare genetic condition that is inherited in an autosomal recessive manner. Listed below are multiple variations of Seckel Syndrome caused by gene mutations on multiple chromosomes. [physio-pedia.com]

Zinchenko Laboratory of Genetic Epidemiology, Research Centre for Medical Genetics, Moskvorechie St., 1, Moscow, Russian Federation, 115478 Andrey V. Marakhonov Authors Andrey V. [link.springer.com]

Although the lack of biological samples from the Jawad family prevented us from analyzing the predicted appearance of the shorter species of CtIP mRNA and protein in this case, we hypothesize that in each disease, the causative mutation leads to a transcript [journals.plos.org]