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

Child Abuse and Neglect (CAN) is a serious public health crisis that has major implications for the welfare of the child involved. Inflicted non-accidental skeletal injuries are the second most common manifestation of child abuse after soft tissue injuries. There are several genetic disorders and congenital defect conditions that have been associated with bone fragility and fractures that can be misdiagnosed as child abuse. Osteogenesis Imperfecta (OI) is the most common genetic abnormality associated with multiple unexplained fractures in an infant or child that can be misdiagnosed as child abuse. Moreover, rickets and Ehlers-Danlos/hypermobility syndrome (EDS), which are associated with normal or low bone density and increased bone fragility, can also result in X-ray findings that can be mistaken for child abuse.

EDS is a genetic disease that affects collagen synthesis and structure resulting in multisystem connective tissue involvement with twelve different subtypes. The clinical manifestations of EDS include skin hyperextensibility, skin fragility, joint hypermobility, muscle hypotonia, easy bruising, and mast cell hypersensitivity. Moreover, fragility fractures with normal or low bone density has been reported among both pediatric and adult patients with EDS. EDS has been reported in the literature to be misdiagnosed as CAN due to unexplained facial scars and skin lesions. It has also been reported that EDS can present with a congenital skull fracture at birth. To our knowledge there has been no reported cases in the literature that link non-accidental fractures among infants with EDS and OI/EDS. However, concerns regarding the likelihood of increased risk for fractures among infants with EDS and the OI overlap syndrome and the possibility for misdiagnosing CAN have been raised.

Rickets is a metabolic bone disease most commonly caused by vitamin D deficiency. This deficiency results in demineralization of the skeleton due to secondary hyperparathyroidism as well as a mineralization defect of newly laid down osteoid. Vitamin D also plays a critical role in chondrocyte maturation and as a result vitamin D deficiency results in growth plates that have abnormal mineralization and ossification. The poorly mineralized skeleton of a rachitic child increases risk for fragility fractures and has been reported to be misdiagnosed as CAN. Similar bone lesions can be seen on an X-ray in both vitamin D deficiency rickets and infants and children suspected of being abused making it difficult to differentiate between these two conditions. Moreover, these two conditions can be found simultaneously in one patient.

Classic Metaphyseal Lesions (CMLs), also referred to as corner fractures or bucket handle fractures, were first attributed to Caffey who noted unusual radiologic lucencies in the growth plates in the long bones in 6 infants born between 1925 and 1942 who presented with subdural hematomas. Originally it was concluded that this radiologic finding was caused by a small piece of bone that was avulsed and considered due to shearing forces on the fragile growth plate. As a result of this interpretation of this radiologic finding most pediatric radiologists and child abuse experts consider it to be pathognomonic for non-accidental trauma. However Kleinman et al who introduced the term metaphyseal lesion (now known as classic metaphyseal lesion;CML proposed that this radiologic lucency was not an avulsion but rather was due to a transplanar micro-fracture of unknown etiology. They also concluded that most bucket-handle lesions are not associated with displaced fractures but were in fact a result of a nonorthograde radiologic protection. These radiographic findings are often subtle and easily misinterpreted as fractures. These lesions can be found in infants and children with vitamin D deficiency rickets as well as in children with the collagen matrix genetic disorder OI.

Acquired and genetic disorders of bone, such as vitamin D deficiency and EDS, are quite common and may be overlooked in infants who present with rib or extremity fractures in various stages of healing at several skeletal sites including CMLs. The importance of recognizing these conditions is stressed as it may save these families from the horrific consequences of being considered a child abuser including loss of their child and their other children to adoption, the possibility of being incarcerated as a felon and having their names placed on the child abuse registry limiting their present and future employment possibilities.

We present 72 cases of infants who presented with multiple fractures. Most were evaluated along with their parents for evidence of acquired or inherited bone diseases.