ESPE Abstracts

Background: Escobar Syndrome (ES; OMIM #265000) is a rare condition falling under the spectrum of Multiple Pterygium Syndromes (MPS). MPS encompasses a group of congenital anomaly disorders characterized by features such as neck, elbows, and knee webbing alongside joint contractures (arthrogryposis). ES, specifically, represents a non-lethal variant stemming from homozygous or compound heterozygous mutations in the CHRNG gene. Noteworthy characteristics include short stature, distinctive facial features, arthrogryposis, and extensive skin webbing, which collectively pose diagnostic challenges, given their resemblance to other congenital syndromes like Turner and Noonan Syndromes.

Case report: This case study presents the clinical trajectory of a 10-year-old female exhibiting postnatal short stature and diminished growth velocity since infancy. Despite a relatively uneventful prenatal history and uncomplicated vaginal delivery, she faced respiratory distress at birth, necessitating admission to the neonatal intensive care unit (NICU). Regarding family history, parents have normal stature (mother -0,2 SDS and father 1,7 SDS), non-consanguineous, target height of 167 cm (0,8 SDS), and four siblings without growth disorders. Remarkably, her medical history lacked chronic diseases, surgeries, or continuous medication use. Moreover, she demonstrated appropriate neuropsychomotor development. However, a comprehensive physical examination at ten years revealed: a pre-pubertal girl with short stature (-3.2 SDS), BMI at -1.52 SDS (sitting height/height ratio of 1.92 SDS), ocular hypertelorism, broad nasal bridge, ogival palate, retrognathism, trident hairline, low-set ears, syndactyly on hands, extension limitation of both upper and lower limbs, pectus carinatum, nipple hypertelorism, joint hypermobility, and skeletal deformities such as lordosis and scoliosis. After complete exomic sequencing, the following heterozygotic variants were identified in CHRNG: NM_005199.5:c.459dupA:p.(Val154Serfs*24); NM_005199.5:c.117dupC:p.(Asn40Glnfs*96).

Conclusion: ES's phenotype resembles Turner and Noonan Syndromes. Treatment is focused on correcting or mitigating the impacts of the deformities and necessitates the involvement of a multidisciplinary team. However, owing to its rarity and similarities in phenotypic presentation, ES may be erroneously diagnosed and treated as one of these more common congenital syndromes. Consequently, this often leads to underdiagnosis and treatment delays for ES patients. To ensure the adequate management of ES, healthcare specialists must possess a thorough understanding of this rare condition and consider it when confronted with patients resembling Turner or Noonan syndromes but exhibiting atypical clinical presentations.