Prenatal ultrasound can demonstrate peripheral and visceral vascular anomalies, cardiomegaly, nonimmune hydrops, macrocephaly
, hemi-hypertrophy, and umbilical cord hemangioma.
Several rare conditions have been identified where macrocephaly
persists into adulthood: Cowden disease, tuberous sclerosis, neurofibromatosis type 1, Weaver syndrome, Sotos syndrome, autism spectrum disorder (Winter & Baraitser, 1996; Williams et al.
Type 2 is digynic with a small non-cystic placenta and a growth-retarded fetus with relative macrocephaly
The variable features include macrocephaly
or microcephaly, hypoplasia of midline brain structures, ventricular dilatation, microphthalmia, cleft lip/palate, and congenital contractures.
In human, percentage of sperm stained positively with Chromomycin A3, an indication of deprotamination, had a positively correlation with macrocephaly
was detected in physical examination, and neurological examination was unremarkable except truncal ataxia.
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).
Here we report a 3 years old male patient who was referred to the department for macrocephaly
and delay in walking.
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).
Of the 100 children, (68%) 68/100 had normal occipitofrontal circumference while (28%)28/100had microcephaly and (4%) 4/100 had macrocephaly
or microphallus), or because both a physician diagnosis and anthropometric information necessary to accurately categorize head circumference percentile were missing.
7 The clinical manifestation of posterior fossa abnormalities include macrocephaly
, enlarging head circumference, hemiparesis and developmental delay.