Hereditary defect of the sacrum

Area of Science:

• Genetics
• Developmental Biology
• Orthopedics

Background:

• Sacrococcygeal agenesis is a rare congenital anomaly affecting the terminal part of the spine.
• Hereditary patterns of sacrococcygeal defects are not well-documented in scientific literature.
• Understanding the genetic basis is crucial for genetic counseling and early diagnosis.

Purpose of the Study:

• To report a familial case of partial sacrococcygeal agenesis.
• To investigate the potential mode of inheritance and associated clinical findings.
• To highlight the need for comprehensive family screening in cases of sacrococcygeal anomalies.

Main Methods:

• Clinical case presentation of a family with affected members.
• Radiological examination of affected individuals and family members.
• Review of existing literature on hereditary sacrococcygeal defects.

Main Results:

• A mother and two daughters presented with partial agenesis of the sacrum and coccyx.
• The affected 4-year-old daughter exhibited a neurogenic bladder and a presacral mass, leading to severe urinary incontinence.
• The inheritance pattern is hypothesized to be X-linked dominant, potentially lethal in hemizygous males.

Conclusions:

• Familial sacrococcygeal agenesis may follow an X-linked dominant inheritance pattern.
• Associated anomalies like neurogenic bladder and presacral masses can occur.
• Radiological assessment of all family members is essential to accurately determine the incidence of hereditary sacrococcygeal deformities.