Prenatal diagnosis of brain abnormalities in Wolf–Hirschhorn (4p‐) syndrome

Abstract

Subtle abnormalities on ultrasound may suggest a chromosomal problem. Standard cytogenetics cannot always demonstrate a microdeletion. High-resolution banding and molecular analysis can help to confirm the diagnosis.

Tethered cord, corpus callosum abnormalities, and periventricular cysts in Wolf–Hirschhorn syndrome. Report of two cases and review of the literature

“…Periventricular cysts were seen in seven patients. The age at imaging of this subset of patients varied from prenatal [De Keersmaecker et al, 2002], 1 day (Patient 2), 2 days (Patient 1), 1 month, 6 months, and 12 months [Righini et al, 2007]. In one case the age at imaging was not mentioned but the patient was diagnosed with WHS prenatally [Battaglia et al, 1999].…”

Prenatal Sonographic Patterns in Six Cases of Wolf-Hirschhorn (4p–) Syndrome

“…De Keersmaecker et al [20] underlined the semiologic value of multifocal white matter lesions and periventricular cystic changes, which are classically attributed to perinatal distress. Heart defects (atrial septal defect and univentricular heart [15]) and cardiomegaly with arrhythmia [17], or esophageal atresia, diaphragmatic hernia [16], hyperechogenic bowel [20], upper limbs asymmetry [17] or foot deformity [21] have also been occasionally detected by ultrasound. In some publications, ovular abnormalities have been mentioned, such as oligohydramnios [18,19] placental chorioangioma [15,27] and single umbilical artery [10,16] (table 1).…”

“…Only a few cases had typical sonographic signs associated with the growth delay. Reported signs were microcephaly [17], retrognathism [15], cystic hygroma [15], hypertelorism [15], low-set ears [20], cleft lip and palate [14,16], and bilateral choroid plexus cysts [19,20]. De Keersmaecker et al [20] underlined the semiologic value of multifocal white matter lesions and periventricular cystic changes, which are classically attributed to perinatal distress.…”

“…Reported signs were microcephaly [17], retrognathism [15], cystic hygroma [15], hypertelorism [15], low-set ears [20], cleft lip and palate [14,16], and bilateral choroid plexus cysts [19,20]. De Keersmaecker et al [20] underlined the semiologic value of multifocal white matter lesions and periventricular cystic changes, which are classically attributed to perinatal distress. Heart defects (atrial septal defect and univentricular heart [15]) and cardiomegaly with arrhythmia [17], or esophageal atresia, diaphragmatic hernia [16], hyperechogenic bowel [20], upper limbs asymmetry [17] or foot deformity [21] have also been occasionally detected by ultrasound.…”

Three-dimensional sonographic features of a fetus with Wolf-Hirschhorn syndrome

“…3,4 In neonates, a distinct facial feature is the Greek warrior helmet appearance of the face, which has been considered pathognomonic for WHS. [4][5][6] Defi nite diagnosis is made by chromosome study using G-banding conventional cytogenetic testing or fl uorescence in situ hybridization (FISH).…”