macrocephaly


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macrocephaly

[′mak·rə′sef·ə·lē]
(medicine)
The condition of having an abnormally large head.
References in periodicals archive ?
Thus, VGAM must be considered in all children presenting with macrocephaly. Moreover, imaging studies must be performed in patients presenting with concomitant macrocephaly and headache.
The classical triad in infantile CD in early childhood is hypotonia, macrocephaly, and head lag (4).
There was no family history of macrocephaly or neurological diseases.
Damaging DNMs in CHD8 are one of the most common causes of simplex cases ofASD, and 80% of individuals with ASD and a DNM in CHD8 also display macrocephaly (39).
The patient's father had a prior history of macrocephaly and a large benign tumor removed from his left flank at age 17 years.
Ellis et al., "Chromosome 19p13.3 deletion in a patient with macrocephaly, obesity, mental retardation, and behavior problems," American Journal of Medical Genetics Part A, vol.
Prenatal diagnosis and molecular analysis of triploidy in a fetus with intrauterine growth restriction, relative macrocephaly and holoprosencephaly.
Macrocephaly in bull spermatozoa is associated with nuclear vacuoles; diploidy and alteration of chromatin condensation.
The clinical findings that may be observed in this syndrome include odontogenic keratocysts in the jaw, which generally develop in the first 30 years of life, basal cell carcinomas (BCC) from early childhood, palmar and plantar pits, falx cerebri calcification, frontal bossing, macrocephaly, broad nasal bridge, mild mandibular prognatism, vertebral anomalies, cleft palate, cleft lip, highly arched palate, eye anomalies, and tumors including medullablastoma and fibromas in the ovaries and heart (2).
Mild macrocephaly was detected in physical examination, and neurological examination was unremarkable except truncal ataxia.
Birth anomalies were described as follows, based on the criteria of the 10th revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10): talipes equinovarus (n = 1), polydactyly (n = 1), syndactyly (n = 1), other congenital anomaly of the foot (n = 2), Down syndrome (n = 3), macrocephaly (n = 1), unspecified syndrome (n = 1), spina bifida (n = 1), unspecified brain abnormality (n = 1), congenital anomaly of male genital tract (n = 1), unspecified head and neck abnormality (n = 2), and multiple malformations (n = 1).
Physical examination revealed a short stature, vertebral anomalies, scoliosis, mesomelic limb shortening, short and broad fingers, macrocephaly and a dysmorphic face (Figure 1), characterized by a prominent forehead, hypertelorism, flattened and widened nose and macrocheilia.