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Laryngeal findings in short rib polydactyly syndrome: case report and embryological correlations
C H Knapp1, A Santin-Hodges, R R Cole
1Department of Otolaryngology-Head and Neck Surgery, University of Texas Health Science Center, Houston 77030.
Insights
Short Rib Polydactyly Syndrome (SRPS) involves rare congenital disorders with polydactyly and limb/rib shortening. Type I SRPS can cause laryngeal dysgenesis, specifically epiglottic hypoplasia, as shown in new autopsy photos.
Area of Science:
- Medical Genetics
- Developmental Biology
- Pediatric Pathology
Background:
- Short Rib Polydactyly Syndrome (SRPS) is a spectrum of rare genetic disorders.
- Key features include polydactyly, short ribs, and limb shortening.
- Type I SRPS, also known as Majewski syndrome, can involve laryngeal abnormalities.
Observation:
- This study presents photographic documentation of laryngeal findings in an infant with Type I SRPS.
- The observed laryngeal anomaly was epiglottic hypoplasia, a form of laryngeal dysgenesis.
- This photographic evidence is, to our knowledge, the first published documentation of these findings.
Findings:
- Laryngeal dysgenesis, specifically epiglottic hypoplasia, is a potential manifestation of Type I SRPS.
- Developmental errors leading to SRPS are hypothesized to occur between 33 and 48 days of gestation (Carnegie stages 15-19).
- Normal laryngeal development is reviewed using the Carnegie staging system.
Implications:
- Provides crucial visual data for understanding SRPS-related laryngeal malformations.
- Aids in the diagnosis and management of infants with Short Rib Polydactyly Syndrome.
- Contributes to the knowledge of early human embryonic development and congenital anomalies.
Abstract:
Short Rib Polydactyly Syndrome (SRPS) is a group of rare congenital disorders characterized by polydactyly, short limbs, and short ribs. Infants with type I SRPS (Majewski syndrome) may exhibit dysgenesis of the larynx, which is manifested by epiglottic hypoplasia. Photographic documentation of laryngeal findings obtained at autopsy in an affected infant is provided. To our knowledge, such photographic documentation has not been previously published. Normal laryngeal development is reviewed, based on the Carnegie system of staging. The developmental errors leading to SRPS are thought to occur at 33 to 48 days of fetal life (Carnegie stages 15 through 19).