Shwachman-Diamond syndrome (SDS) is a rare autosomal recessive disorder mainly caused by mutations in the Shwachman-Bodian-Diamond syndrome gene on chromosome 7q11. Although skeletal abnormalities are a feature of SDS, no reports have focused on the craniofacial morphology of patients with SDS. Moreover, the detailed dental characteristics of SDS remain unknown. In the present case report, we evaluated the craniofacial morphology and dental findings of two patients with SDS. A Japanese adolescent sibling pair with SDS had the chief complaint of excessive overjet. Cephalometric analysis revealed similar craniofacial morphology in both patients: skeletal class I malocclusion with a hypodivergent pattern and labial inclination of the maxillary and mandibular incisors. A panoramic photograph showed the tendency of delayed permanent tooth eruption and replacement in both patients. These cases suggest that malocclusion requiring orthodontic treatment might be a feature of patients with SDS.

Klippel-Feil syndrome-4 (KFS4), a rare autosomal recessive form of Klippel- Feil syndrome, is characterized by facial dysmorphism, nemaline myopathy, and short stature. Only 10 cases of KFS4 have been previously published in the literature. We report a novel case of a 1- month-old girl with known KFS4 and Robin Sequence (RS). At 2 months old, she underwent bilateral mandibular distraction osteogenesis to correct significant airway obstruction. Despite adequate mandibular advancement, the patient failed extubation twice and eventually required a tracheostomy. Due to the multiple anomalies present in KFS4, mandibular distraction osteogenesis may have a decreased likelihood of surgical success.

Aarskog-Scott syndrome (AAS), also known as facio-digito-genital syndrome, is a rare heterogenous syndrome characterized by facial dysmorphism, brachydactyly, and genetic abnormalities. Although severe craniofacial abnormalities have been reported in AAS, little is known about speech and resonance issues in AAS. Specifically, published data to date have only indicated reports of hypernasality associated with a cleft palate in AAS. This case report provides clinical and anatomic information surrounding hypernasal speech in the absence of an overt cleft palate in a patient with AAS.

Goltz syndrome is a rare X-linked dominant multisystem disorder that presents with ectoderm and mesoderm-derived symptoms. Skin manifestations including congenital patchy skin aplasia, congenital nodular fat herniation, congenital hypo- or hyperpigmentation along Blaschko\'s lines, telangiectasia, and congenital ridged dysplastic nails are typical in this disorder. Almost all cases of Goltz syndrome correspond to female newborns and that hemizygosis makes the syndrome fetal in males. Triple X syndrome is a relatively common congenital disorder that presents with mild to no symptoms in the developmental and psychiatric realm. The patient reported here was born with multisystem anomaly affecting the eyes, craniofacial region, cardiovascular system, skin, and limbs. A G-banding chromosomal study revealed 47, XXX. She was diagnosed with Goltz syndrome owing to her distinctive skin manifestations. The congenital cervical skin defect healed with conservative treatment. The facial cleft, cleft lip-palate, and syndactyly were successfully treated with multiple surgical treatments. The combination of triple X syndrome and Goltz syndrome is very rare. We describe the expression of presenting with both syndromes simultaneously.

This article aims to determine how quality of life (QoL) is defined and assessed in cases of severe craniofacial anomalies, as well as the impact such considerations may have on the treatment of a neonate with these conditions with respect to palliative neonatal care. Our literature review found insufficient evidence to suggest that craniofacial anomalies result in consistently poor QoL. Based on these findings and in line with the current acceptable standards for the ethical care of neonates, with the exception of rare cases, resuscitative efforts should always be performed on patients with isolated craniofacial anomalies, as demonstrated in the management of this reported patient.

The aim of this article is to discuss about rare representation of ankyloblepharon (an established chromosomal anomaly with aberration of p53 inherited as an autosomal dominant trait) with cleft of palate without any other feature of ectodermal dysplasia. The need to surgically address ankyloblepharon in order to avoid complications is also discussed.

Proboscis lateralis (PL) is a rare congenital craniofacial anomaly and it is represented by rudimentary, tube-like nasal structure measuring 2-3 centimetre (cm) length and generally attaches to medial canthal region. A 22-month-old male patient was referred to our clinic with a PL hanging from the right medial canthus and a coloboma on the medial third of the right lower eyelid. Physical examination revealed that the PL was 4 cm long and 1.5 cm in diameter. There was a blind cavity with dimple at its distal segment. The right side of the nose and the nasal airway was aplastic. Before surgical correction, neuroradiological evaluation should be performed to obtain the characteristics and relationship of the lesion with adjacent structures and associated anomalies Many reconstructive options have been described in the literature, however, these options are insufficient to obtain natural contour and define alar crease, especially. We described the laterally-based skin flap from the medial wall of the left heminose and adapted to the lateral edge of the de-epithelialized skin of PL for defining supra-alar crease.

Complete congenital arhinia is a rare defect of embryogenesis leading to the absence of the external nose and airway. We report our novel multistaged reconstructive approach and literature review. Nasal methyl methacrylate prosthesis was created from a stereolithographic model for use as a temporary prosthesis and tissue expander. Lefort 1 with cannulization was utilized for midface advancement and airway formation. External framework was reconstructed with bilateral conchal bowl cartilage and rib osteocartilagenous grafts. Patient was pleased with the aesthetics and had safe decannulation with the ability to breathe through the nose and airway.

The authors present findings and techniques to address hemipalatal discrepancy in patients with Tessier 7 cleft and associated cleft palate during cleft palatoplasty.
The authors report 2 cases of pediatric patients with Tessier 7 facial clefts and associated cleft palate. One patient presents on the broader oculo-auriculo-vertebral spectrum and the other is has isolated Tessier cleft 7. Additionally, a PubMed search was performed using the MeSH terms \"tessier 7,\" \"cleft palate\", \"macrostomia,\" \"tessier 7 AND cleft palate,\" \"macrostomia AND cleft palate,\" AND \"hemipalatal discrepancy.\" All relevant literature was identified and underwent full review for qualitative analysis.
Two patients met criteria for inclusion in this article. The surgical techniques utilized to mitigate the hemipalatal length discrepancy are detailed, and intraoperative photographs are provided. The results of the literature review are also presented. Tessier 7 craniofacial cleft and palatal clefts, when occurring in combination, is noted to result in discrepant hemipalatal length with short maxillary palate length on the affected side as well hypoplasia of the associated speech musculature. The postoperative palatal length after palatoplasty in both patients was longer than the preoperative hypoplastic palatal length.
When occurring in combination, Tessier 7 craniofacial cleft and concomitant palatal cleft results in discrepant hemipalatal length, and deficiency of the bony maxillary palatal shelves, and associated speech musculature and soft tissues. The techniques described in this article may assist in maximizing postoperative palatal length.

Bilateral Tessier type 4 craniofacial clefts are extremely rare and disfiguring malformations with vision-threatening ramifications. To date, there is no consensus in the literature with respect to the ideal surgical technique and management of these patients. Emergent eyelid reconstruction and additional procedures may be required to protect the cornea and avoid further ophthalmic and surgical complications. We present our experience and challenges of managing a case of bilateral Tessier type 4 clefting with an emphasis on oculoplastic considerations.