Report on ocular biometry of microphthalmos, retinal dystrophy, flash electroretinography, ocular coherence tomography, genetic analysis and the surgical challenge of entropion correction in a rare case of Hallermann-Streiff-Francois syndrome.

PURPOSE: To report new aspects of the phenotype including Retinal dystrophy and surgical challenges in Hallermann-Streiff Francois syndrome (HSFS). METHODS: Detailed phenotype of a female with HSFS was evaluated including skeletal changes, comprehensive eye examination, detailed ocular biometry, electroretinography and macular Ocular coherence tomography. Surgical notes of lid surgery for entropion were reviewed. Genetic screening was also done. RESULTS: Unique Ocular biometry with electroretinography changes, macular folds and fundus changes suggestive of an unreported Retinal dystrophy in a typical patient with HSFS were noted. Surgery was challenging both due to difficulty in endotracheal intubation anaesthesia because of the dento-facial abnormalities and the skin fragility. CONCLUSION: This report provides additional information especially pigmentary retinal dystrophy, macular folds and electroretinography in HSFS. The microphthalmos had overlapping posterior segment findings usually reported with Nanophthalmos and Posterior microphthalmos. The surgical difficulties and outcomes of the rarely encountered adnexal abnormalities emphasize the need for a multi disciplinary approach for appropriate management.

Lighted stylet-guided intubation via the intubating laryngeal airway in a patient with Hallermann-Streiff syndrome.

PURPOSE: Hallermann-Streiff syndrome is a congenital syndrome associated with oculomandibulofacial abnormalities and potentially difficult airways. This case report describes the novel use of a lighted stylet-guided tracheal tube insertion through a new supraglottic airway, the intubating laryngeal airway (ILA), in a patient with Hallermann-Streiff syndrome who had anticipated difficult airway. CLINICAL FEATURES: A 26-year-old male with Hallermann-Streiff syndrome was scheduled for a vitrectomy. The patient had mandibulofacial dystocia with a bird-like appearance, a mouth opening of 4 cm, a receding chin, and a Mallampati class 3 examination. The surgeon requested muscle paralysis and no movement during surgery. After receiving midazolam, fentanyl and propofol, a size 3.5 ILA was inserted and lung ventilation was easy to perform. A 7.5-mm internal diameter tracheal tube was mounted on a lighted stylet with its inner rigid stylet removed. After succinylcholine administration, the lighted stylet-tracheal tube assembly was inserted via the ILA until the transillumination just vanished below the sternal notch. The lighted stylet was removed, the circuit was connected, and capnography confirmed tracheal placement of tube. The ILA was deflated and left in situ. Upon emergence from anesthesia, the tracheal tube, and subsequently the ILA, were removed without complications. CONCLUSIONS: This case presents a novel use of a lighted stylet-guided tracheal tube insertion through the ILA in a patient with Hallermann-Streiff syndrome. This intubation technique can be considered in patients with difficult airways as a primary route of intubation, or as a secondary rescue strategy.

Successful pregnancy in a patient with Hallermann-Streiff syndrome.

Reproductive capacity has not been studied in patients with Hallermann-Streiff syndrome, but successful pregnancy in these patients is rare. A patient with the classic signs--plus a müllerian developmental anomaly, hypertension, glaucoma, and an extensive surgical history--was artificially inseminated, and a term gestation ensued.

Hallermann-Streiff syndrome and its oral implications.

A patient with Hallermann-Streiff syndrome was followed from birth to nine years of age. The oral manifestations during the course of the nine years were documented.