Introduction

Robinow syndrome is a rare hereditary disorder characterized by a constellation of features including mesomelic dwarfism, genital hypoplasia, and craniofacial and limb deformities. It presents in two genetic forms: a more severe and prevalent autosomal recessive type, linked to the ROR2 gene, and an autosomal dominant type, associated with the WNT5A gene. Due to significant clinical heterogeneity and the limited number of reported cases, defining its precise phenotypic spectrum remains a challenge.¹ The diagnosis is established clinically based on its suggestive features and confirmed through molecular genetic testing that identifies causative mutations.²

The characteristic craniofacial dysmorphism is often pronounced in early childhood and includes macrocephaly, prominent frontal bossing, midface hypoplasia, and significant ocular hypertelorism. This facial structure often results in prominent eyes with an appearance of exophthalmos due to lower eyelid hypoplasia. While surgical management in Robinow syndrome is multidisciplinary, typically addressing deformities such as cleft lip, syndactyly, and genital anomalies, procedures for eyelid malposition have not been previously described in this population.³

We herein report the first documented case of successful surgical correction for scleral show in a patient with Robinow syndrome.

Case Description

A 12-year-old male with a known diagnosis of Robinow syndrome presented to our department for management of bilateral scleral show. His examination was notable for marked pseudo-exophthalmos secondary to midface hypoplasia and lower eyelid retraction. Given these findings, a surgical plan was formulated to perform lower eyelid reinsertion using a muscle-periosteal flap combined with bilateral canthopexy.

His craniofacial morphology was consistent with the classic phenotype of Robinow syndrome, featuring prominent midface hypoplasia and marked ocular hypertelorism, which contributed to his ocular presentation. To protect patient identity, photographic documentation in this report is limited to the periocular region.

The patient’s past medical history was significant for a complicated neonatal course with anoxia, requiring a three-month admission to a neonatal intensive care unit, and a corneal transplant at age three. A complete history was difficult to obtain due to fragmented medical records. However, his history was suggestive of a congenital heart defect (under pediatric cardiology follow-up) and a possible repaired tracheoesophageal fistula, though the family could not confirm these diagnoses.

The procedure was performed under local anesthesia with 2% lidocaine. A lateral canthotomy and inferior cantholysis of the lateral canthal tendon were carried out to release the lower eyelid. A tarsal strip was then fashioned from the lateral lower eyelid tarsus and anchored to the periosteum of Whitnall’s tubercle using a 5-0 Prolene suture, providing horizontal eyelid tightening. For vertical support, a myocutaneous flap of the lower eyelid, including the orbicularis oculi muscle, was elevated and secured to the deep temporal fascia (► Fig. 1). The orbicularis muscle layer was then reapproximated using 5-0 Vicryl sutures. Following meticulous hemostasis, the lower eyelid was positioned with its margin at the level of the inferior iris, resulting in 2 mm of superior iris coverage. The canthotomy incision was then closed in anatomical layers (► Fig. 2).

Fig. 1 - Myocutaneous flap of the lower eyelid elevated and secured to the deep temporal fascia.

Fig. 1 - Myocutaneous flap of the lower eyelid elevated and secured to the deep temporal fascia.

Fig. 2 - (A) Preoperative dimensional analysis and incision planning. (B) Surgical creation and elevation of the musculoperiosteal flap for lower eyelid repositioning. (C)Flap fixation. (D) Postoperative comparison with the contralateral (non-operated) eyelid, demonstrating significant improvement in scleral show.

Fig. 2 - (A) Preoperative dimensional analysis and incision planning. (B) Surgical creation and elevation of the musculoperiosteal flap for lower eyelid repositioning. (C)Flap fixation. (D) Postoperative comparison with the contralateral (non-operated) eyelid, demonstrating significant improvement in scleral show.

The patient’s postoperative course was uneventful. At the 7-day follow-up visit, the surgical incisions were healing well, with no signs of infection, inflammation, or suture dehiscence. A significant functional improvement was noted, with the patient able to achieve complete eyelid closure and resolution of the preoperative scleral show (► Fig. 3).

Fig. 3 - (A) Postoperative day 7: Clean wound edge margins with proper coaptation, demonstrating adequate healing and absence signs of infection. (B) Postoperative day 14: Excellent wound healing with adequate flap support for lower eyelid repositioning. (C)Postoperative day 14: Appropriate eyelid position with significant improvement in scleral show. (D) Long-term postoperative follow-up: Appropriate bilateral eyelid closure.

Fig. 3 - (A) Postoperative day 7: Clean wound edge margins with proper coaptation, demonstrating adequate healing and absence signs of infection. (B) Postoperative day 14: Excellent wound healing with adequate flap support for lower eyelid repositioning. (C)Postoperative day 14: Appropriate eyelid position with significant improvement in scleral show. (D) Long-term postoperative follow-up: Appropriate bilateral eyelid closure.

The study protocol was reviewed and approved by the Research Ethics Committee of the Hospital Universitário Walter Cantídio -Universidade Federal do Ceará (Approval number: 7.460.061; CAAE registration: 87059225.2.0000.5045).

Discussion

This report details the successful surgical correction of complex lower eyelid malposition in a patient with Robinow syndrome. The patient’s phenotype, including significant midface hypoplasia and ocular hypertelorism, directly contributed to the scleral show,^2,4 yet no prior reports have described a surgical correction for this specific deformity.

To our knowledge, this is the first report describing the specific surgical correction of scleral show in a patient with Robinow syndrome. While the surgical technique employed (combining bilateral canthopexy with a muscle-periosteal flap) is an established strategy for other eyelid deformities,^5–7 its application in this syndrome had not been previously documented in the literature.

This surgical approach was adopted for its proven ability to correct scleral show, protect the ocular surface, and improve eyelid function. The technique is a well-established strategy for repositioning deficient lower eyelids and preventing subsequent ophthalmologic complications.^5,8,9 However, due to the syndrome’s rarity, the management of these features remains challenging, and decisions regarding reconstructive techniques must be tailored to the patient’s anatomical characteristics.

The successful outcome in this case underscores the necessity of a multidisciplinary approach, involving collaboration between plastic surgery, ophthalmology, and genetics, to manage the multi-system manifestations of this syndrome.^2,10 The surgical technique was designed to provide durable restoration of eyelid function by anchoring the orbicularis muscle flap to stable periocular structures. The uneventful postoperative course, marked by significant functional improvement, supports the efficacy of this approach in the present patient.

In patients with multiple congenital anomalies, surgical interventions must be prioritized based on functional deficits. In this case, correcting the palpebral malposition was a primary concern due to its implications for corneal protection and preservation of visual function.

This study has several limitations. First, the rarity and the phenotypic variability of Robinow syndrome precludes the generalization of our surgical strategy to all affected individuals. Second, the lack of long-term follow-up data prevents a comprehensive assessment of the correction’sdurability. Finally, the patient’s incomplete medical history limited our ability to fully assess comorbidities that could influence long-term therapeutic planning.

This case report documents the successful application of a planned surgical approach for lower eyelid correction in a patient with Robinow syndrome. The favorable short-term functional outcomes, achieved without complications, support the feasibility and effectiveness of the employed technique in this rare clinical context. Furthermore, this case reinforces the fundamental importance of integrated, multidisciplinary management for patients with complex multi-system syndromes.