My Hips Hurt: An Unusual Presentation of Bilateral Groin Pain in an Adolescent Boy

Van Neck-Odelberg disease (VND) is a rare benign pediatric skeletal abnormality characterized by hyperostosis of the ischiopubic synchondrosis (IPS) and clinical symptoms.1,2,3 IPS is a strip of cartilaginous tissue between the superomedial pubic and posterolateral ischial ossification centers, which develops into the inferior pubic rami and ischial tuberosity, respectively.

Epidemiology and Phenotypic Characteristics of Dual Molecular Diagnosis Cases in Skeletal Abnormality

Background Skeletal abnormality is a heterogeneous group of disorders that affects the composition and structure of bone and cartilage. In our previous studies, we have revealed that a substantial proportion of cases with early-onset scoliosis could be explained by monogenic disorders such as Marfan syndrome and Ehlers-Danlos syndrome. More recently complex phenotypes caused by more than one genetic defect (i.e., dual molecular diagnosis) have also been reported in skeletal abnormalities. To explore the molecular epidemiology and phenotypic characteristics of dual diagnosis in skeletal abnormalities, we described cases with dual molecular diagnosis from the Deciphering disorders Involving Scoliosis and COmorbidities (DISCO) study.Results In total, 1108 patients with skeletal abnormality from the DISCO study underwent Exome Sequencing. We identified eight probands with dual molecular diagnosis, including three (0.7%) from individuals with early-onset scoliosis (EOS), three (0.5%) from individuals with short stature, and two (2%) from individuals with congenital hand/foot deformity (CHFA). Other skeletal abnormalities observed in these individuals included bone fracture and interphalangeal joint contracture. All the eight probands have dual diagnosis of two autosomal dominant (AD) diseases. A total of 16 variants in 12 genes were identified. A substantial rate (5 of 10) of the identified causal variants were of de novo origin. The frequently observed molecular diagnoses (observed in more than one patient) include Osteogenesis Imperfecta Type I (COL1A1, MIM:166200), Neurofibromatosis, Type I (NF1, MIM:162200) and Marfan Syndrome (FBN1, MIM:154700). These patients with dual molecular diagnosis often present blended phenotypes of two diseases, which significantly complicate their diagnostic process. Conclusions This study revealed the molecular epidemiology and complex diagnostic odyssey of dual molecular diagnosis through analyzing the clinical traits of skeletal abnormalities in eight patients.

Imaging of Congenital Skeletal Disorders

Osteochondrodysplasias are the result of the expression of gene mutations. The phenotypes in osteochondrodysplasias evolve through life, with the possibility that previously unaffected bones may be involved at later stages of growth. Due to the variable time of onset, the diagnosis may be made prenatally, at birth, or later. Certainty in the diagnosis is sometimes only achieved as the patient matures and the disease evolves. Radiographic evaluation is a fundamental part of the diagnostic work-up of congenital skeletal disorders and in most cases the first tool used to arrive at a diagnosis. This review describes the imaging characteristics, specific signs, and evolution of several skeletal dysplasias in which diagnosis may be directly or indirectly suggested by radiologic findings. A definitive accurate diagnosis of a congenital skeletal abnormality is necessary to help provide a prognosis of expected outcomes and to counsel parents and patients.

Van Neck Disease: A Rare Case

Hyperostosis of the ischiopubic synchondrosis, van Neck disease, is a rare skeletal abnormality in children. Asymmetric and delayed closure of this cartilaginous joint is considered as a normal phenomenon. The symptomatic presentation of this pathology often mimics other closely related conditions like stress fracture, infection, or tumor. We are presenting a case of van Neck disease in the nondominant limb of an eleven-year-old boy.

Isolated unilateral proximal focal femoral deficiency presenting in a young woman

Proximal focal femoral deficiency (PFFD) is a rare congenital skeletal abnormality characterised by the partial absence of the proximal femoral segment with shortening of the entire lower extremity. It typically presents as a shortened thigh, which is flexed, externally rotated and abducted. Some other skeletal anomalies, especially fibular hemimelia, usually accompany the disorder. The diagnosis of PFFD is made in early childhood and based mainly on conventional radiography. However, the radiographic appearance of the disease evolves as the child grows. In addition, treatment procedures applied to the child affect the radiographic presentation of the disease in adulthood. Almost all cases of PFFD reported to date are in young children and in the current literature, there is a paucity of radiographic images of PFFD in mature skeleton. The aim of this case report is to present the radiographic appearance of PFFD in an adult patient and to increase awareness among radiologists about this disease.

Upper Limb Meromelia with Oligodactyly and Brachymesophalangy of the Foot: An Unusual Association

Meromelia is a rare skeletal abnormality characterized by the partial absence of at least one limb. Several mechanisms have been postulated to explain the etiopathogenesis of the disorder. Most of the cases of meromelia are reported to be sporadic. It can occur either in isolation or with other congenital malformations. VACTERL association, gastroschisis, atrial septal defect, proximal femoral focal deficiency, and fibular hemimelia are the congenital abnormalities reported to be in association with meromelia. However, no other congenital abnormalities in association with meromelia have been recorded to date. We herein present an unusual case of bilateral upper limb meromelia accompanied by unilateral oligodactyly and brachymesophalangy of the foot.

Bronchial carcinoid in children

Bronchial carcinoids (BCs) are uncommon, slow growing, low-grade malignant neoplasm comprising 0.5-2.5% of all primary lung cancers. Although BC’s in childhood often have an endobronchial location causing airway obstruction, they are frequently misdiagnosed as benign conditions, resulting in a delay in definitive diagnosis and treatment. Lung sparing surgery should be done whenever possible, more so in children, for better quality of life and minimizing skeletal abnormality which follows pneumonectomy. We present two cases of bronchial carcinoid in young children.