Case of the Week # 527

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Inanc Mendilcioglu, MD

November 19th, 2020 - December 10th, 2020

Inanc Mendilcioglu, MD: Division of Perinatology, Department of Obstetrics and Gynecology, Akdeniz University, Antalya, Turkey

A 33-year-old woman (G3P1) with no past medical history was referred to our clinic for multiple anomalies at the 17 weeks of pregnancy. First trimester screening test risk for Down syndrome was 1:23.800.

Fetal biometrics are listed in Table 1 and suggested an ultrasound dating of 16 weeks, 1 day compared to her LMP dating of 17 weeks, 4 days.

Table 1: Fetal biometry

Fetal biometry Measurement Percentile Estimated GA
BPD 31.5 mm 2% 15w 6d
OFD 47.8 mm 16% 16w 3d
HC 128.8 mm 5% 16w 4d
EFW 136 g <1% 15w 5d
AC 96.4mm 5% 15w 5d
Femur 19.3mm 2% 15w 5d
Humerus 20.0mm <1%

BPD: biparietal diameter, OFD: occipitofrontal diameter, HC: head circumference, EFW: estimated fetal weight, AC: abdominal circumference, GA: gestational age, w: weeks, d:days.

Our ultrasound examination revealed the following findings:

Image 1
Image 2

Video 1                                                                                                                                           Video 2

Video 3                                                                                                                                            Video 4

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Findings demonstrated the following:

  • Severe fetal growth restriction (Table 1)
  • Increased nuchal thickness (Image 1)
  • Unilateral club foot deformity (Image 2)
  • Bilateral renal hypoplasia (Video 1)
  • Pulmonary atresia with intact ventricular septum, which has been rarely described (Video 2-4).

An amniocentesis was performed and the result was 46 XX, del(4)(p15) indicating Wolf-Hirschhorn Syndrome (4p Deletion Syndrome). The family opted for termination of pregnancy.

Wolf-Hirschhorn Syndrome (4p Deletion Syndrome) is characterized by intellectual disabilities, seizures and the Greek warrior helmet appearance of the nose and forehead, as well as multiple other defects (skeletal, cardiovascular, and urogenital).

Prenatal sonographic features of Wolf-Hirschhorn Syndrome-4P Deletion Syndrome are severe early-onset growth restriction, microcephaly, hypertelorism, wide nasal bridge, cystic hygroma or increased nuchal fold thickness, thin corpus callosum, ventriculomegaly, hypotonia, micrognathia, cleft lip/palate, abnormally positioned ears, midline scalp defects, cardiac defects, diaphragmatic hernia, variable intestinal defects, renal and urinary tract anomalies, and skeletal abnormalities. In terms of cardiac anomalies, atrial septal defects and ventricular septal defects are commonly reported anomalies, but others, like persistent left superior vena cava, valve abnormalities, hypoplastic left heart, tetralogy of Fallot and pulmonary atresia with intact ventricular septum, have been reported.


Carvalho, Julene.  “Lesions of the Right Heart.” Fetal Cardiology. Boca Raton: CRC Press; 2019. pgs 309-329.

Cuillier, Fabrice. "Wolf-Hirschhorn syndrome.", publish date 1/2011.

Lee, Wesley et al. “Chromosome 4p Deletion Syndrome (Wolf-Hirschhorn Syndrome).” Obstetric Imaging Fetal Diagnosis and Care. Philadelphia: Elsevier; 2018. pgs 626-631.

Zanelli, Santina. “Wolf-Hirschhorn Syndrome.”, publish date 01/2021.

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