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Say–Meyer Syndrome
Say–Meyer syndrome is a rare X-linked genetic disorder that is mostly characterized as developmental delay. It is one of the rare causes of short stature. It is closely related with trigonocephaly (a misshapen forehead due to premature fusion of bones in the skull). People with Say–Meyer syndrome have impaired growth, deficits in motor skills development and mental state. It is suggested that it is from a X-linked transmission. Signs and symptoms Common signs of Say–Meyer syndrome are trigonocephaly as well as head and neck symptoms. The head and neck symptoms come in the form of craniosynostosis affecting the metopic suture (the dense connective tissue structure that divides the two halves of the skull in children which usually fuse together by the age of six). Symptoms of Say–Meyer syndrome other than developmental delay and short stature include * Intellectual disability. * Low-set ears/posteriorly rotated ears * Intellectual deficit as well as learning disabilit ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-linked Recessive
X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be always expressed in males (who are necessarily homozygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation, see zygosity. Females with one copy of the mutated gene are carriers. X-linked inheritance means that the gene causing the trait or the disorder is located on the X chromosome. Females have two X chromosomes while males have one X and one Y chromosome. Carrier females who have only one copy of the mutation do not usually express the phenotype, although differences in X-chromosome inactivation (known as skewed X-inactivation) can lead to varying degrees of clinical expression in carrier females, since some cells will express one X allele and some will express the other. The current estimate of sequenced X-linked genes is 499, and the total, including vaguely defined trait ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Intrauterine Period
This is a collection of lists of mammal gestation period estimated by experts in their fields. The mammals included are only viviparous (marsupials and placentals) as some mammals, which are monotremes (including platypuses and echidnas) lay their eggs. A marsupial has a short gestation period, typically shorter than placental. For more information on how these estimates were ascertained, see Wikipedia’s articles on gestational age. The gestation figures given here are shown in days. They represent average values and should only be considered as approximations. Factors affecting the gestation period in mammals There are several factors affecting the length of the gestation period in mammals. Animal size/mass There is a positive relationship between mass at birth and length of gestation in eutherian mammals. Larger mammals are more likely to produce a well-developed neonate than small mammals. Large mammals develop at an absolute slower rate compared to small mammals. T ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
X-linked Recessive Disorders
Sex linked describes the sex-specific patterns of inheritance and presentation when a gene mutation (allele) is present on a sex chromosome (allosome) rather than a non-sex chromosome (autosome). In humans, these are termed X-linked recessive, X-linked dominant and Y-linked. The inheritance and presentation of all three differ depending on the sex of both the parent and the child. This makes them characteristically different from autosomal dominance and recessiveness. There are many more X-linked conditions than Y-linked conditions, since humans have several times as many genes on the X chromosome than the Y chromosome. Only females are able to be carriers for X-linked conditions; males will always be affected by any X-linked condition, since they have no second X chromosome with a healthy copy of the gene. As such, X-linked recessive conditions affect males much more commonly than females. In X-linked recessive inheritance, a son born to a carrier mother and an unaffected fath ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Hypotelorism
Hypotelorism is an abnormally decreased distance between two organs or bodily parts, usually pertaining to the eye sockets (orbits), also known as orbital hypotelorism. Causes It is often a result of fetal alcohol syndrome (FAS), caused by large alcohol intake in the first month of pregnancy. It can be associated with trisomy 13, which is also known as Patau syndrome, as well as hereditary neuralgic amyotrophy.Electromyography and Neuromuscular Disorders, Second Edition. Preston and Shapiro. It can also be associated with fragile X syndrome and Prader–Willi syndrome. Metopic synostosis, the early closure of metopic suture during skull development in children, can also cause hypotelorism. See also * Hypertelorism Hypertelorism is an abnormally increased distance between two organs or bodily parts, usually referring to an increased distance between the orbits (eyes), or orbital hypertelorism. In this condition the distance between the inner eye corners as ... Referen ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Anterior Fontanelle
The anterior fontanelle (bregmatic fontanelle, frontal fontanelle) is the largest fontanelle, and is placed at the junction of the sagittal suture, coronal suture, and frontal suture; it is lozenge-shaped, and measures about 4 cm in its antero-posterior and 2.5 cm in its transverse diameter. The fontanelle allows the skull to deform during birth to ease its passage through the birth canal and for expansion of the brain after birth. The anterior fontanelle typically closes between the ages of 12 and 18 months. Clinical significance The anterior fontanelle is useful clinically. Examination of an infant includes palpating the anterior fontanelle. A sunken fontanelle indicates dehydration whereas a very tense or bulging anterior fontanelle indicates raised intracranial pressure. However, this is not a certain indicator for raised pressure as prolonged crying by the baby may produce the same effect. A full anterior fontanelle may also be indicative of neonatal meningitis, spe ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Posterior Fontanelle
The posterior fontanelle (lambdoid fontanelle, occipital fontanelle) is a gap between bones in the human skull (known as fontanelle), triangular in form and situated at the junction of the sagittal suture and lambdoidal suture. It generally closes in 6–8 weeks from birth. The cranial point in adults corresponding the fontanelle is called 'lambda' A delay in closure is associated with congenital hypothyroidism. See also * Lambda (anatomy) The lambda is the meeting point of the sagittal suture and the lambdoid suture. This is also the point of the occipital angle. It is named after the Greek letter lambda. Structure The lambda is the meeting point of the sagittal suture and t ... References Skull {{musculoskeletal-stub ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Julia Meyer
Julia is usually a feminine given name. It is a Latinate feminine form of the name Julio and Julius. (For further details on etymology, see the Wiktionary entry "Julius".) The given name ''Julia'' had been in use throughout Late Antiquity (e.g. Julia of Corsica) but became rare during the Middle Ages, and was revived only with the Italian Renaissance. It became common in the English-speaking world only in the 18th century. Today, it is frequently used throughout the world. Statistics Julia was the 10th most popular name for girls born in the United States in 2007 and the 88th most popular name for women in the 1990 census there. It has been among the top 150 names given to girls in the United States for the past 100 years. It was the 89th most popular name for girls born in England and Wales in 2007; the 94th most popular name for girls born in Scotland in 2007; the 13th most popular name for girls born in Spain in 2006; the 5th most popular name for girls born in Sweden ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
Burhan Say
Burhan ( ar, برهان, ) is an Arabic male name, an epithet of the Islamic Prophet Muhammad. It is especially popular in Turkey, as it respects Turkish vowel harmony and the end syllable "-han" can be interpreted as the Turkish variant of "Khan". Origin Given name * Burhan Ali, self-declared Shah of Shirvan * Burhan Nizam Shah II (ruled 1591–1595), the ruler of Ahmadnagar in the Deccan * Buran bint al-Hasan ibn Sahl, wife of Abbasid caliph al-Ma'mun (r. 813–833) * Burhan G (born 1983), Danish R&B and pop singer, songwriter and producer of Kurdish-Turkish origin * Burhan Alankuş (born 1950), Turkish alpine skier * Burhan Atak (1905–1987), Turkish footballer * Burhan Asaf Belge (1899–1967), served as the representative of Muğla province during the 11th term of Turkish National Assembly * Burhan Al-Chalabi (born 1947), British-Iraqi writer and political commentator * Burhan Conkeroğlu (1903–2001), Turkish wrestler * Burhan Doğançay (born 1929), Turkish-American pa ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] |
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