Skeletal Dysplasia and Congenital Malformation









Shital N. Parikh, MD, FACS, Editor
In the article, “Evaluation of the Child with Short Stature,” Mehlman and Ain provide an overview on the assessment of a child with skeletal dysplasia, including prenatal diagnosis. Short stature is a frequent cause of anxiety for patients and their families. Proportionate short stature, where limbs and trunk are proportionately affected, is either familial or due to a systemic cause like metabolic disorder, chronic illness, or endocrinopathy, and is usually treated by our medical colleagues. Disproportionate short stature, on the other hand, is usually due to skeletal dysplasia, is genetic in origin, and is frequently seen by the pediatric orthopedic surgeon. It could be either short-limb or short-trunk type. Fetal ultrasound and, recently, fetal MRI can identify lethal skeletal dysplasias, including achondrogenesis and osteogensis imperfecta type II as well as several nonlethal skeletal dysplasias. At birth and then after, the mainstays of diagnosis are clinical examination and radiographic evaluation. The authors summarize the important aspects of physical and radiographic examination, citing examples, to evaluate for skeletal dysplasias. The review is not meant to be all-inclusive but provides valuable points that can help establish a preliminary diagnosis for the common dysplasias. The knowledge about characteristic dysmorphic features, short limb versus short trunk dysplasia, and radiographic structural abnormalities of the bone can help with the initial evaluation of a child with short stature. Appropriate referrals and genetic evaluation can then help establish a definitive diagnosis and aid in further management and prognosis.


For the article, “Discoid Meniscus: Diagnosis and Management,” Kushare and colleagues review the literature and discuss the methods of diagnosis and decision-making factors that are important in the management of discoid meniscus. Discoid meniscus should be ideally labeled as lateral meniscus variant because it encompasses variation in the size, shape, and attachments of the lateral meniscus. It is debatable as to what part of the anomaly is congenital and what is developmental. Traditionally, the discoid meniscus has been classified as complete, incomplete, and Wrisberg-type meniscus. The newer classification system that the authors discuss is based on peripheral rim stability of the meniscus, size of the meniscus, and presence or absence of a tear. Though many children with discoid meniscus are asymptomatic, symptoms attributable to discoid meniscus are due to either underlying tear or instability. The popping of the knee complaint, for which the parents frequently seek medical attention for their child, is usually due to the underlying instability of the meniscus. If and when the child needs surgical treatment, the principle of treatment is to reshape the meniscus, stabilize the unstable part of the meniscus, and avoid total menisectomy.


I hope the readers will find both these articles useful and applicable in their clinical practice.

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Feb 23, 2017 | Posted by in ORTHOPEDIC | Comments Off on Skeletal Dysplasia and Congenital Malformation
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