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İngilizce - Türkçe

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Associated abnormalities include the following:• Body asymmetry (extremities; macrocephaly )• Glaucoma • Cutaneous atrophy• Neurological
Kaynak: Cutis marmorata telangiectatica congenita

Zori-Stalker-Williams syndrome, also known as pectus excavatum, macrocephaly, short stature and dysplastic nails, is a rare autosomal
Kaynak: Zori–Stalker–Williams syndrome

GA1 before the encephalopathic crisis Macrocephaly: with glutaric acidemia type 1 often are born with unusually large heads (macrocephaly ).
Kaynak: Glutaric aciduria type 1

Relations have been found between autism , duplications of chromosomes and macrocephaly on one side. On the other side a relation has
Kaynak: Microcephaly

Children with Sotos syndrome tend to be large at birth and are often taller, heavier, and have larger heads (macrocephaly ) than is normal
Kaynak: Sotos syndrome

It is characterized by polyhydramnios and fetal overgrowth, including macrocephaly , neonatal macrosomia , visceromegaly , dysmorphic
Kaynak: Perlman syndrome

subcutaneous lipoma s, macrocephaly and hemangioma s The disease is inherited in an autosomal dominant form, but sporadic cases have been reported.
Kaynak: Bannayan–Riley–Ruvalcaba syndrome

retardation , hyperactivity , hypotonia (low muscle tone), and a characteristic facial appearance including macrocephaly (an abnormally large head).
Kaynak: FG syndrome

These mutations lead to characteristic features including macrocephaly, intestinal hamartomatous polyps, benign skin tumors (multiple
Kaynak: Cowden syndrome

s of the ocular iris , axillary/inguinal freckling, pulmonary valvular stenosis , relative macrocephaly , short stature , and neurofibroma s
Kaynak: Watson syndrome

This disorder is also characterized by widely spaced eyes (ocular hypertelorism), an abnormally large head size (macrocephaly ), and a
Kaynak: Greig cephalopolysyndactyly syndrome

Cranial features include macrocephaly, a bulging forehead, prominent occiput, large anterior fontanel, ocular hypertelorism, depressed
Kaynak: 3C syndrome

because of early onset macrocephaly in the pediatric population, there is often an increased chance of development of epilepsy in those affected.
Kaynak: Neurofibromatosis

microcephaly and macrocephaly, respectively, raising the possibility that DUF1220 copy number may be involved in influencing human brain size.
Kaynak: DUF1220

with crowding and misalignment of the upper teeth ; macrocephaly (enlarged skull ) with a prominent forehead , hypernasal speech
Kaynak: Lujan–Fryns syndrome

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