Adipsic hypernatremia and bilateral renal stones in a child with ectrodactyly-ectodermal dysplasia-cleft lip-palate...

Area of Science:

• Genetics
• Endocrinology
• Nephrology

Background:

• Ectrodactyly, ectodermal dysplasia, and orofacial clefts (EEC) syndrome is an autosomal dominant disorder.
• It is characterized by variable expression of ectrodactyly, ectodermal dysplasia, and orofacial clefts.

Observation:

• This report describes a patient diagnosed with EEC syndrome.
• The patient presented with adipsic hypernatremia and bilateral renal stones.
• Notably, no brain anomalies were observed in this patient.

Findings:

• The co-occurrence of adipsic hypernatremia and bilateral renal stones in EEC syndrome is reported for the first time.
• These manifestations expand the known clinical spectrum of EEC syndrome.

Implications:

• This case broadens the understanding of EEC syndrome's phenotypic variability.
• It highlights the importance of considering endocrine and renal evaluations in patients with EEC syndrome.
• Further research may elucidate the underlying mechanisms connecting EEC syndrome to these novel manifestations.