Fetal polycystic kidney disease in oro-facio-digital syndrome type I

Area of Science:

• Genetics
• Developmental Biology
• Medical Imaging

Background:

• Oro-facio-digital syndrome type I (OFD I) is an X-linked dominant disorder characterized by specific craniofacial, oral, and digital malformations.
• Polycystic kidney disease (PKD) is a known, though variable, feature in adult female carriers of OFD I.
• The presentation of fetal PKD in OFD I has been primarily documented in lethal homozygous males.

Observation:

• A case report detailing a female infant diagnosed with OFD I, presenting with characteristic facial dysmorphism, lingual hamartomas, postaxial polydactyly, and brain malformations.
• Diagnosis was supported by fetal ultrasound and fetal magnetic resonance imaging (MRI) findings of polycystic kidney disease (PKD).
• The patient had a deceased male sibling with similar malformations, consistent with the X-linked dominant inheritance pattern of OFD I.

Findings:

• This observation highlights the occurrence of fetal polycystic kidney disease (PKD) in a female patient with oro-facio-digital syndrome type I (OFD I).
• It demonstrates that PKD can manifest prenatally in heterozygous females with OFD I, not exclusively in lethal homozygous males.
• The phenotypic spectrum of PKD in OFD I is broader than previously understood, encompassing fetal presentation in females.

Implications:

• This case expands the known phenotypic variability of polycystic kidney disease (PKD) within the context of oro-facio-digital syndrome type I (OFD I).
• It underscores the importance of comprehensive fetal imaging for OFD I diagnosis, including assessment for renal anomalies.
• Further research into the genetic and developmental mechanisms linking OFD I and PKD may reveal new insights into both conditions.