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2015-04-20-22 Answer to the case of the week #395 © Cuillier 

Answer to the case of the week #395

May 21, 2015 - June 04, 2015

Fabrice Cuillier, MD1; J.L. Alessandri, MD2; B. Doray, MD3.

1. Department of Gynecology, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France;
2. Department of Neonatology, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France;
3. Department of Cytogenetic, Félix Guyon’Hospital, 97400 Saint-Denis, Ile de la Réunion, France.

Case report

An 18-year-old patient was sent to our clinic at 31 weeks of her gestation due to premature uterine contractions and polyhydramnios. Her family and personal history was not remarkable.

Our ultrasonographic examination confirmed p
olyhydramnios and hypokinesia of the fetus. Other findings included:


- Macrosomia;


- Macrocrania;
- Normal intracranial structures;
- Normal facial profile;
- Macrostomia with constantly opened mouth;
- Macroglossia;
- Cleft palate;
- Broad nose;
- Mild hypertelorism;


- Normal cardiac morphology;


- Visceromegaly, enlarged hyperechoic kidneys;


- Normal feet and hands;


Small penis, cryptorchidism (hypospadia was also found postnatally).

The findings were suspected of an overgrowth syndrome, and especially 
Simpson-Golabi-Behmel syndrome came to our mind. 

Amniocentesis was done and revealed normal karyotype. The newborn was delivered at 35 weeks (male, 3700 g). Postnatal adaptation was normal. Cryptorchidism was confirmed and hypospadia was also present.

A few weeks later, 
diagnosis of the Simpson-Golabi-Behmel syndrome was confirmed by genetic examination (deletion Xq26.2, with interruption of the gene GPC3).

At 5 months of life the child weighs 7 kg, hypotonia, occipital plagiocephaly, coarse face with macrostomia and visceromegaly are present.  The child is included in the continuing health care with monitoring of his psychomotor development. Regular ultrasonographic examination of the kidneys and liver are performed due to increased risk of tumor development (Wilms tumor, neuroblastoma)    

Images 1, 2, 3, 4, and video 1: 31 weeks of gestation; macrocrania (Image 1 - biparietal diameter corresponds to 36 weeks of gestation, head circumference corresponds to 38 weeks of gestation) with normal intracranial structures (Image 1, 2), normal fetal profile (Image 3) and constantly opened wide mouth (macrostomia) (Image 4; video 1) can be seen.



Images 5, 6: Transverse color Doppler (Image 5) and sagittal (Image 6) scans of the fetal face showing suspected cleft palate.


Image 7, video 2: The Image and video shows mild hypertelorism of the fetus. Macrostomia can be also seen during the video sweep.


Images 8, 9, 10, 11: 31 weeks of gestation; 3D images showing macrostomia and broad nose of the fetus.


Images 12, 13
31 weeks of gestation; 3D images showing normal shape of the ears.


Images 14, 15, 16, 16, 18, 1931 weeks of gestation; 3D images showing normal feet and hands of the fetus.




Image 20, 21
31 weeks of gestation; image 20 shows normal insertion of the umbilical cord to the abdomen (no omphalocele) and small male genitalia with cryptorchidism. The image 21 shows male genitalia with cryptorchidism.


Image 22, 2331 weeks of gestation; enlarged mildly hyperechoic kidneys can be seen.


Video 3, image 24: 31 weeks of gestation; normal cardiac anatomy is present (video 3); polyhydramnios (image 24).


Images 25, 26, 27, 28: Fetal biometry showing general macrosomia of the fetus.



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