Case of the Week # 81

Ana Maria Bircher, MD, Fernando Heredia, MD, Rani Lewis, MD*, Philippe Jeanty, MD, PhD

October 11 - 24, 2002

Women's Health Alliance, Nashville, Tennessee. *Maternal Fetal Medicine Nashville, TN

A 30-year-old woman was referred at 25-week gestation. The following images were obtained at that time.

The fetal head (2D and 3D reconstructions)

c4
c2
c5
c1
c6
c3

The fetal face

 

N
O

Note the beautiful surface 3D rendering

ca1
ca3
ca5
ca4
ca2

The fetal thorax

M
B

The upper limbs

l3
l5
brazos1

The lower limbs

l1
l2
l4

There is also a short video clip available.

There is another video clip with greyscale surface 3D rendering of the fetal face and head.

What is (are) the finding(s), and the name of the condition ?

View the Answer Hide the Answer

Answer

A 30 year old woman was refered for a second opinion at 25-week gestation. The following images were obtained at that time.

The fetal head (2D and 3D reconstructions) showed moderate hydrocephalus probably due to compression of foramen magnum.

c4
c2

The following coronal plane 3D reconstructions show the typical Kleeblattschädel or Cloverleaf skull.

c5
c1
c6
c3

Transverse mid face plane clearly show exophtalmos, and the facial profile show frontal bossing and low nasal bridge.

 

N
O

Further 3D surface rendering mode images show further details:

ca1
ca3
ca5
ca4
ca2

Note the "bell-shaped"  thorax seen on the images below.

M
B

The upper limbs were short, mostly rhizomelic and mantained a right angle throughout all examinations.

l3
l5
brazos1

Lower limbs were as well very short and rhizomelic. The femurs in these next images show the typical "telephone receiver" shape.

l1
l2
l4

Probably the most striking feature this fetus showed during its examination was the cloverleaf skull. In OMIM, entering only the key word "Cloverleaf skull" brings us to all differentials which are:

#187601   THANATOPHORIC DYSPLASIA WITH KLEEBLATTSCHAEDEL
607161     MULTIPLE CONGENITAL ANOMALIES SYNDROME WITH CLOVERLEAF SKULL
148800     KLEEBLATTSCHAEDEL SYNDROME
156830     MICROMELIC BONE DYSPLASIA WITH CLOVERLEAF SKULL
#187600  THANATOPHORIC DYSPLASIA; TD
#101600  PFEIFFER SYNDROME
#123790  CUTIS GYRATA SYNDROME OF BEARE AND STEVENSON
#182212  SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME
*211890  CAMPOMELIA, CUMMING TYPE
211990    CAMPTOMELIC SYNDROME, LONG-LIMB TYPE
602361    GRACILE BONE DYSPLASIA
#604757  CRANIOSYNOSTOSIS, TYPE 2; CRS

Within these, the most probable one is Thanatophoric dysplasia (type II) with cloverleaf skull.

These are postmortem images of this fetus:

pat1
pat4
pat3
pat2

And the radiology.

rx1
rx3
rx2

Discussion Board

Start a discussion about this case
Add to Favorites Favorite

Menu