Diaphragmatic defects and limb deficiencies - taking sides.

Area of Science:

• Developmental Biology
• Clinical Genetics
• Teratology

Background:

• Diaphragmatic defects and limb deficiencies are typically independent anomalies.
• They can occur as polytopic field defects or wider patterns of malformation, potentially affecting laterality or midline development.

Purpose of the Study:

• To investigate the association between the sides involved in diaphragmatic defects and limb deficiencies.
• To determine if specific patterns of sidedness exist in cases with co-occurring anomalies.

Main Methods:

• A literature review and analysis of 88 adequately described cases with diaphragmatic and limb defects.
• Statistical evaluation of the sidedness (left, right, bilateral) of limb and diaphragmatic defects.

Main Results:

• No significant association was found between the sidedness of diaphragmatic defects and limb deficiencies (P = 0.48).
• Limb deficiencies were bilateral in 56% of cases. Among unilateral cases, 59% were ipsilateral and 41% contralateral.
• Contralateral defects were more common with left diaphragmatic defects and right limb deficiencies, often seen in de Lange syndrome or other multiple malformation patterns.

Conclusions:

• The co-occurrence of diaphragmatic and limb defects in most cases suggests a widespread dysmorphogenetic process rather than a localized field defect.
• While some trends towards ipsilateral defects were observed in Poland anomaly or isolated cases, multiple congenital anomalies often present with bilateral or widespread involvement.