Diaphragmatic rupture is an uncommonly seen complication of classical Ehlers-Danlos syndrome (cEDS). There have been no documented cases of diaphragmatic hernia in newborns having cEDS. This case study discusses a male infant delivered through spontaneous vertex delivery to a mother with cEDS. No evidence of a diaphragmatic hernia was found 6 days before delivery when an ultrasound scan to monitor a ventricular septal defect was carried out. Postnatally, the infant displayed signs of severe respiratory distress. A chest radiograph revealed a diaphragmatic hernia. The surgical team found and corrected a small posterolateral diaphragmatic defect on the third day of life. This resulted in a good recovery following management of a complication of chylothorax. The mother was known to have cEDS and bidirectional sequencing of the patient's lymphocyte DNA detected the heterozygous pathogenic familial variant COL1A1 c.934C > T;p.(Arg312Cys). This variant has been previously reported in cases of cEDS. Other COL1A1 variants are known to be associated with arthrochalasia-type EDS and osteogenesis imperfecta, but no COL1A1 variants have been associated previously with congenital diaphragmatic hernia or diaphragmatic rupture. The familial variant impacts the highly conserved arginine residue in the Gly-X-Y triplet motif of the Type-I collagen protein. It has been reported in various families as a rare cause of autosomal-dominant cEDS. This case report details the patient's journey, including images of radiographs, highlighting a rare but important complication of spontaneous vertex delivery for individuals with cEDS. We also include a literature review on diaphragmatic hernia and rupture in classical EDS.

Ehlers-Danlos syndromes (EDS) are inherited connective tissue disorders with diverse clinical manifestations, complicating subtype classification. While joint hypermobility, skin hyperextensibility, and tissue fragility are key diagnostic features, oral and maxillofacial signs are often overlooked. This review compiles dental and maxillofacial manifestations in EDS patients and identifies subtype-specific features to assist diagnosis. This systematic review followed Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines and was registered on PROSPERO (CRD42023410501). Studies published from 1969 to March 2023 were screened. Eligible studies included original articles, case series, and case reports involving human subjects with any EDS subtype reporting dental or maxillofacial features. Subtype-specific maxillofacial features included nasal bridge depression in 80% of arthrochalasia EDS, downslanting palpebral fissures in 80% of kyphoscoliotic EDS, and deep-set eyes in 34% of classical EDS (cEDS). Oral anomalies comprised tooth agenesis in 50% of spondylodysplastic and 75% of dermatosparactic EDS cases. Dental malformations included pulpal calcifications (11/89 cEDS), root fusion (8/31 vascular EDS [vEDS]), and excessive root length (11/31 vEDS). Gingival hyperplasia was reported in 100% of dermatosparactic EDS cases. The absence of labial and/or lingual frenula remains debated. This review underscores the diagnostic value of a thorough oral and maxillofacial examination in identifying EDS subtypes.

We report on the surgical management of severe early onset kyphoscoliosis in a 5-year-old patient with the rare arthrochalasia subtype of Ehlers-Danlos syndrome, who we have followed for 17 years post-operatively. Successful correction of the deformity with an excellent outcome was achieved with minimal morbidity using MAGEC™ (MAGnetic Expansion Control) growth rods instead of traditional growth rods, undertaken with the close involvement of plastic surgical colleagues. Our patient suffered only one minor surgical complication (thought to be allergic rather than traumatic in origin), despite having skin so fragile that rubbing his skin with a disinfectant wipe was sufficient to cause skin breakdown. The non-invasive lengthening that the MAGEC rods allowed enabled us to avoid repeated open surgeries which would have had a high risk of complications, most notably wound breakdown with poor healing, and we advocate their use in similar cases.

We present a boy in middle childhood with a medical history of arthrochalasiaEhlers-Danlos syndrome who was diagnosed with scoliosis as a toddler. His treatment began at a regional children's hospital, where initial spine radiographs demonstrated a 43.6° dextroscoliosis curve with the apex at L3. He was initially treated with a Boston brace, and the family was informed that MAGEC (Magnetic Expansion Control) growing rods were likely the definitive treatment due to the high likelihood of progression given the patient's large Cobb angle. However, the decision was made by the family and the Ehlers-Danlos syndrome specialist to proceed with the Wood-Rigo-Cheneau derotational brace.

Health problems in patients with heritable connective tissue disorders (HCTD) are diverse and complex and might lead to lower physical activity (PA) and physical fitness (PF). This study aimed to investigate the PA and PF of children with heritable connective tissue disorders (HCTD). PA was assessed using an accelerometer-based activity monitor (ActivPAL) and the mobility subscale of the Pediatric Evaluation of Disability Inventory Computer Adaptive Test (PEDI-CAT). PF was measured in terms of cardiovascular endurance using the Fitkids Treadmill Test (FTT); maximal hand grip strength, using hand grip dynamometry (HGD) as an indicator of muscle strength; and motor proficiency, using the Bruininks-Oseretsky Test of Motor Proficiency-2 (BOTMP-2). A total of 56 children, with a median age of 11.6 (interquartile range [IQR], 8.8-15.8) years, diagnosed with Marfan syndrome (MFS), n = 37, Loeys-Dietz syndrome (LDS), n = 6, and genetically confirmed Ehlers-Danlos (EDS) syndromes, n = 13 (including classical EDS n = 10, vascular EDS n = 1, dermatosparaxis EDS n = 1, arthrochalasia EDS n = 1), participated. Regarding PA, children with HCTD were active for 4.5 (IQR 3.5-5.2) hours/day, spent 9.2 (IQR 7.6-10.4) hours/day sedentary, slept 11.2 (IQR 9.5-11.5) hours/day, and performed 8,351.7 (IQR 6,456.9-1,0484.6) steps/day. They scored below average (mean (standard deviation [SD]) z-score -1.4 (1.6)) on the PEDI-CAT mobility subscale. Regarding PF, children with HCTD scored well below average on the FFT (mean (SD) z-score -3.3 (3.2)) and below average on the HGD (mean (SD) z-score -1.1 (1.2)) compared to normative data. Contradictory, the BOTMP-2 score was classified as average (mean (SD) z-score.02 (.98)). Moderate positive correlations were found between PA and PF (r(39) = .378, p < .001). Moderately sized negative correlations were found between pain intensity and fatigue and time spent actively (r(35) = .408, p < .001 and r(24) = .395 p < .001, respectively). This study is the first to demonstrate reduced PA and PF in children with HCTD. PF was moderately positively correlated with PA and negatively correlated with pain intensity and fatigue. Reduced cardiovascular endurance, muscle strength, and deconditioning, combined with disorder-specific cardiovascular and musculoskeletal features, are hypothesized to be causal. Identifying the limitations in PA and PF provides a starting point for tailor-made interventions.