T. Haufe, K. Stahn (Radiologie SKH DD-Neustadt und Kinderklinik SKH DD-Neustadt)  

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Newborn  

Female  

Syndromes  

congenital  

Full-term, eutrophic, dysproportionate newborn, APGAR 8/7/9, clinically elongated trunk, short thoracic region and short extremities. Facial dysmorphy, palpable tibial head, post-partum respiratory distress.  

Genetic cause with dysfunction of enchondral and pericondral bone growth.

Generally very heterogenic illness, molecular defect still unknown.  

<- view X-Ray 1

X-Ray 1: Thorax ap.supine: Plump rib pairs, shortened ribs (1-6), Lung hypoplasia, assymetrical location of the diaphragm, also ventilation disturbances on the left side. Platyspondylia, plump shoulders with expansion of the inferior angles of both scapulae.





<- view X-Ray 2

X-Ray 2: Spine lateral: distinct platyspondylia, also distension of the metaphyses of the long bones.





<- view X-Ray 3

X-Ray 3: Pelvic overview ap. (enlarged detail): Plump pelvic skeleton with halbert-like deformed ala, shortening of the femurs with distension of the metaphyses (Dumbbell-like)



<- view X-Ray 4

X-Ray 4: Arm left. ap. (enlarged detail): Shortened long bones with distension of the metaphyses in the humerus, overly-proportinally large hand, cupping of the metaphyses of the short bones of the hand and forearms.





<- view X-Ray 5

X-Ray 5: postmortum babygram ap.: In conjunction to the afore-mentioned changes, the shortened tibiae with distension of the metaphyses.



 

Total constellation (Consens)  

Achondroplasia,
Osteodysplasia Kniest,
Mucopolysaccaridosis IV  

Clinical course: With CPAP, the child transiently stabilized, but weaning from the ventilator was not possible. Increased respiratory insufficiency with required ventilation. Death on the 28th day of life due to respiratory insufficiency.

Very rare illness, where the patient had an early lethal form with thoracic and lung hypoplasia (autosomal-dominant form). There are also autosomal-recessive forms with more positive clinical courses. In these cases, there is a proportion-reversal (initially, the extremity shortening dominates, later the truncal shortening).
Often proof of a tail-stump.  

Special thanks to Prof. Dr. E. Rupprecht, Dresden.  

N/A  

1. Medline:
Wiedemann/Kunze
Atlas der klinischen Syndrome für Klinik und Praxis
Schattauer Verlag Stuttgart, New York 1995

2. Medline:
Baraitser/Winter
Missbildungssyndrome
Verlag Hans Huber Bern 2001  

Bone dysplasia, bone growth dysfunction, child, childhood, pediatric radiology  

T Haufe, K Stahn. Metatrophic Dysplasia. PedRad [serial online] vol 6, no. 5.
URL: www.PedRad.info/?search=20060502102116