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1999-07-23-05 Answer of case of the week #5 © Clavelli www.TheFetus.net


Answer to Case #5:

July23-August 6, 1999

Submitted by Dr. M.Pierro, Dra.Florencia Repossi ,and  Dr.  Adrian Clavelli, Buenos Aires, Argentina

Observations

Several views of the face and neck of a 23-week fetus were provided

case-5-1.jpg (6598 bytes)

This first image showed that the mandible of the fetus was “too small”.

case-5-2.jpg (6595 bytes)

This view demonstrates an unusual “snout-like nose”.

case-5-3.jpg (6002 bytes)

Strange looking ear !

case-5-5.jpg (5679 bytes)

case-5-6.jpg (6717 bytes)

case-5-7.jpg (6345 bytes)

These 2 views demonstrated that unusual wavy line under the face. Also not the absence of lower face.

And for those of you at the leading edge of technology, Dr. Clavelli had provided those two 3D reconstructions where the absence of lower face was quite clear. Less visible if not looked for was the funny looking ears that art very big and very low set.

There were 2 videos each about 1.8 MB  (video #1 and video #2) for this case and they added a lot to the static images.

Video 1
Video 2

Findings

So the findings were:

1) absence of the lower face

2) abnormal nose

3) some wavy structure under the face, that from the 3D reconstructions and the videos are probably the ears.

4) another interesting observation was that the fluid was generous in almost all views provided.

Differential diagnoses

The more important finding is that of micrognathia. Unfortunately there are over 160 syndromes with micrognathia. Actually because of the polyhydramnios we should consider that this micrognathia is sufficient to prevent the fetus from swallowing properly. This is thus an extreme form of micrognathia, or in fact agnathia. If we now include the combination of agnathia and abnormal ear and nose, then the diagnosis is much more limited and the leading diagnosis becomes agnathia-microstomia-synotia also called otocephaly.

Clinical History

This is a 28 years old woman, that had a normal ultrasound at 15 weeks in another institution. At 25 weeks her ultrasound (including 3D) demonstrated polyhydramnios, gross anomalies of the face, with maxillary hypoplasia. The diagnosis was unknown. At 28 weeks the BPD was 68 mm, femoral length:, 50 mm, abdominal perimeter: 235 mm, EFW: 1200 g. There was normal movements of the body and the arms and legs, normal fetal heart activity, a small stomach. The face gave the appearance of a proboscis (although the nose was below the eyes) and there was a great maxillary hypoplasia. Polyhydramnios was also noted. The placenta was normal. A karyotype was performed (normal 46 XY)

Management

Nowadays we make prenatal diagnosis with ultrasound and genetics (clinical assessment and/or karyotype). When these two tools are not enough we have to look for help with people with more experience than us.

Ultrasound with the collaboration of the computer tools can give us expanded possibilities to improve: looking in CD encyclopedias,  Internet articles or better yet consulting with others to establish the diagnosis. This is what we have done in this case. As the karyotype was normal we send two scanned images by Internet to Philippe Jeanty MD PHD, and a few seconds later the answer was there: “Probably Otocephaly”.

At 29 weeks the patient was rescan without significant changes in the anatomy to make a videotape for complete assessment by Dr. Jeanty, and to make some 3D reconstruction. After watching the tape, Dr. Jeanty confirmed his impression that the diagnosis was Otocephaly.

Evolution

The mother had a spontaneous stillbirth delivery at 35 weeks. The Pathologist report confirmed that the fetus had agnathia, anostomia, hypoglosia, proboscis, antimongoloid palpebral fissures, otocephaly, synothia, posterior fossa hypoplasia, adrenal hypoplasia, microgastia and pulmonary hypoplasia.

Images similar to those in fig 1 and 2.

Discussion 

3D ultrasound has not demonstrated up to the moment significant (objective) difference with bidimensional ultrasound in prenatal diagnosis. One of the reasons for that is that while we scan the fetus in realtime two dimension we make the 3D reconstruction in our brain of what we are scanning. We easily recognize what we have already seen in books, journals or in our own experience. But what is difficult for us is to reconstruct what we have never seen before and this is the area where 3D can help. Also this is the type of anomalies where 3D reconstruction can help explain to parents what is the condition of their child

Conclusions

The actual technology gives us a great ultrasound image quality, the possibility of 3D reconstruction and lot of software that can be use to save, modify or send images by electronic mail.

Some pathologies are so uncommon that are difficult to understand in two-dimension ultrasound. Probably 3D will help in some of these cases. The present electronic mail let us send images all over the world for consultation. Yet all the technology that nowadays help us, can not replace the knowledge of prenatal pathology

OTOCEPHALY

Synonyms: Synotia – agnathia – melotia

Definition: This is a craniofacial syndrome with a constellation of findings consistent with symmetrically deficient development of the first branchial arch. Characteristically, those affected have ventrally displaced ears, microstomia, and an atrophic to absent mandible. Secondary to oropharyngeal incompetence, ventilatory difficulties typically lead to the imminent death of these infants shortly after birth.

The syndrome can occur alone, or in association with holoprosencephaly (when it is then called agnathia-holoprosencephaly)

Etiology: Unknown

Diagnosis by ultrasound: This condition should be suspected when is impossible to visualize the jaw and the ears are seen in a very low position. Others finding include: absent ears, dysplastic ears, low set ears, hypertelorism, prominent eyes,  proboscis, blepharospasm, choanal atresia /stenosis, absent mandible, cleft palate, absent or hypoplastic tongue. 

Associated anomalies: include Holoprosencephaly, Neural tube defects, Cephaloceles, Hypoplastic tongue, Tracheoesophageal fistula, Cardiac anomalies, Adrenal hypoplasia

Differential diagnosis:  include Esophageal atresia  (polyhydramnios),  Treacher – Collins syndrome and many others with micrognathia

Prognosis: incompatible with life in most of the cases

Management: As this pathology is associated with polyhydramnios, obstetrical care will require therapeutic amniocentesis in some cases.

See also: Agnathia-holoprosencephaly

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