Genetic disorders and malformations can mimic mechanically induced deformations —and all physicians should know how to recognize the difference and refer patients for intervention.

The fifth edition of Smith’s Recognizable Patterns of Human Deformation, by Cedars-Sinai Guerin Children’s providers John Graham, MD, ScD, and Pedro Sanchez, MD, offers essential guidelines for the diagnosis and timely effective treatment of structural deformations resulting from unusual and excessive constraint on a fetus during development. Mechanically induced deformations are distinct from—and managed differently than—genetic malformations and disruptions of development.

“The ability to differentiate nonprogressive deformations is really significant for the treating team and the family,” said Sanchez, director of Medical Genetics at Cedars-Sinai. “It’s important to know the condition is not an ongoing process and can benefit from intervention and treatment.”

The only text devoted to the diagnosis and management of structural birth defects resulting from late gestational fetal constraint, this 52-chapter reference details common conditions affecting the craniofacial region, such as plagiocephaly, and the limbs. Each chapter opens with bulleted points of significance and is outlined in four sections: “Genesis,” “Features,” “Management and Prognosis,” and “Differential Diagnosis.”

The newly updated compendium includes material on fetal disruptions that occur during the first and second trimesters and outlines current clinical practice guidelines informed by decades of expert experience at Cedars-Sinai and other institutions.

For example, clubfoot—one of the more common deformations, which can cause an irregular gait and lead to arthritis—has previously been treated with surgery. However, especially when diagnosed very early, clubfoot can be successfully repaired with casting and braces. In younger patients, pectus deformations can also be managed with bracing—or endoscopic surgery for teenaged patients—which can improve a patient’s breathing, posture and cardiac function.

Neonatologists, pediatricians, family practitioners, nurses, physical and occupational therapists, and residents in all fields can consult this text to help diagnose and make informed patient referrals to pediatric orthopedists, craniofacial plastic surgeons, neurosurgeons and other specialists.

“This is an essential reference text for anyone dealing with newborns,” said Graham, director of the Dysmorphology Program at Cedars-Sinai. “Early intervention is key to successful treatment, which is sometimes relatively straightforward.”

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