Analysis of Pena Shokeir phenotype

Area of Science:

• Developmental Biology
• Medical Genetics
• Prenatal Medicine

Background:

• The Pena Shokeir phenotype is recognized as a description of fetal akinesia or reduced in utero movement, not a distinct diagnosis.
• This phenotype presents with a constellation of anomalies including polyhydramnios, intrauterine growth retardation, pulmonary hypoplasia, and limb/craniofacial malformations.

Purpose of the Study:

• To clarify that the Pena Shokeir phenotype represents a spectrum of disorders resulting from fetal akinesia.
• To emphasize the heterogeneity of causes and presentations associated with this phenotype.
• To highlight the importance of recognizing the fetal akinesia/hypokinesia sequence for potential clinical management.

Main Methods:

• Review of reported cases exhibiting the Pena Shokeir phenotype.
• Analysis of the phenotypic characteristics and associated anomalies.
• Conceptual synthesis of the underlying developmental principles.

Main Results:

• The Pena Shokeir phenotype is associated with a heterogeneous group of disorders, encompassing diverse anomalies and etiologies (genetic and environmental).
• Early recognition of cardinal signs of fetal akinesia/hypokinesia sequence can prompt investigation for associated anomalies.
• The concept that fetal movement is integral to normal development is reaffirmed.

Conclusions:

• The Pena Shokeir phenotype and fetal akinesia/hypokinesia sequence are descriptive terms for a condition with varied causes and manifestations.
• Prompt identification of the fetal akinesia/hypokinesia sequence may allow for timely interventions and potentially alter outcomes.
• Prenatal diagnosis and treatment hold promise for managing certain cases, underscoring the critical role of fetal function in development.