Introduction

The bone within the connective tissue is structurally modified and fragilized in patients with EDS syndrom. Osteopenia is frequent and Osteoporose is a risk. Bone fragility of infant with an Ehlers-Danlos syndrome in the first year of life is very little known in pediatric emergency, and this leads to false accusations of molestation and the intervention of justice to divide the child from his parents.

Description

This fragility is responsible for pathologic fractures with no traumatism in the first months of life, and appears when simple movements are made (diaper change or bath), or when pressing on the body (closing the stroller belt). The most complete study has been made by Michael Holick in Boston in 2017 on 79 patients with pathologic fractures. The diagnostic may be achieved when facing a limb deformation with loss of voluntary mobility. In other cases "fracture traces", anomalies of the bone structure without clinical manifestation are observed. These fractures are often multiples (Silverman Syndrom) and are found on cartilages, diaphyses, ribs, clavicles, acromion, skull bones…

Physiopathology

The role of lack of Vitamin D. Low levels of vitamin D in blood are very frequent in EDS. Michaël Holick has put in evidence the role of a lack of Vitamin D during pregnancy in infants with fractures. These low or very low levels of Vitamin D are a very strong medico-legal argument in favor of the non traumatic origin of fractures for a judge to explain bone fragility.

The proof of diagnosis

The family environment also plays an important role. In our experience based on 5000 cases, when a parent is affected by EDS, so is his child. This is another very strong argument for the judge. Clinical arguments exist: joint hypermobility, joint crunches, subluxations, translucid skin, skin fragility and stretch ability, difficult swallowing, constipation. A clubfoot or a hip luxation at birth are also arguments in favor of a EDS diagnose. Bone fragility disappears after the first months of life as the bones recalcify, not because children are divided from their parents.

Radio of spontaneous fractures in infant with an Ehlers-Danlos - Docteur Michael Holick (Boston).

(A) Detachment epiphysal of the lower extremity of the tibia (arrows) (B) Fractures of the front part of several ribs (arrows) (C) Lower extremity of the tibia : detachment and bone splinter (arrow) (D) Areas of demineralization along the skull and face bones sutures (*) (E) Clear Detachment of the lower extremity of the radius (F) Wedging of vertebral L2 (arrow)

Conclusions

Consequences for the Infants are considerable. If left undiagnosed the infant is threatened of serious complications. It is urgent to share this pathology within competent medical structures.

Bibliography

M. L. Holick, A. Hossein-Nezhad & F. Tabatabaei, "Multiple fractures in infants who have Ehlers-Danlos/hypermobility syndrome and or vitamin D deficiency. A case series of 72 infants whose parents were accused of child abuse and neglect". Dermato-Endocrinology, Volume 9, 2017, issue 1.