Craniosynostosis, the premature ossification of one or more skull sutures, is a clinically and genetically heterogeneous congenital anomaly affecting approximately one in 2,500 live births. In most cases, it occurs as an isolated congenital anomaly, that is, nonsyndromic craniosynostosis (NCS), the genetic, and environmental causes of which remain largely unknown. Recent data suggest that, at least some of the midline NCS cases may be explained by two loci inheritance. In approximately 25-30% of patients, craniosynostosis presents as a feature of a genetic syndrome due to chromosomal defects or mutations in genes within interconnected signaling pathways. The aim of this review is to provide a detailed and comprehensive update on the genetic and environmental factors associated with NCS, integrating the scientific findings achieved during the last decade. Focus on the neurodevelopmental, imaging, and treatment aspects of NCS is also provided.

Genetic advances in craniosynostosis

Trisomy 18 and trisomy 13 syndromes

Alimentary tract duplications: A survey of 13 cases

Trisomy 13 mosaicism is a rare genetic disorder affecting a small minority of all trisomy 13 cases. It occurs when two cell populations that are karyotypically different are present in the same individual and are derived from a single zygote. As a rule, the phenotype is mitigated to a less dysmorphic appearance and longer survival, making genetic counseling a difficult task. Capillary hemangiomas are a common feature of full trisomy 13, seen in 27-56% of all cases. We report on an 18-months-old girl with extensive cutaneous anomalies, mild dysmorphic features, and slight psychomotor delay, without structural defects and provide an up-to-date review of all cases of trisomy 13 mosaicism with skin involvement. To our knowledge, this is the second clinical report of a patient with trisomy 13 mosaicism with hemangiomas and port wine stains, but no structural defects. © 2015 Wiley Periodicals, Inc.

Cutaneous manifestations in trisomy 13 mosaicism: A rare case and review of the literature.

Epidermoid and dermoid cysts constitute the common benign masses that involve the skin. They are classified as epidermoid cyst when the lining contains only squamous epithelium, ‘‘true’’ dermoid cysts when skin adnexa such as hair follicles, sebaceous glands, and sweat glands are present and teratoid cysts when tissues from all three germ layers, such as cartilage, bone, muscle, and respiratory or gastrointestinal epithelium are present. These lesions may arise anywhere in the body. Dermoid and epidremoid cyst of the head and neck account for 7% of all dermoid epidermoid cysts. Suprasternal region is an uncommon site of presentation for epidermoid cyst with the first case documented in Turkey in 2008 and recently six in india. We report a case of an epidermoid cyst in the suprasternal region, presented as a large mass associated with odynophagia and weight loss.

/pdf/epidermoid-cyst-of-the-suprasternal-region-a-rare-case-1bcsoipf91.pdf

Epidermoid cyst of the suprasternal region: a rare case report

Trisomy 13, or Patau syndrome is a rare chromosomal disorder characterized by a triad of cleft lip and palate, postaxial polydactyly and microcephaly. Complete, partial, or mosaic forms of the disorder can occur. Mosaic trisomy 13 is very rare, it occurs in only 5% of all patients with trisomy 13 phenotype. Metopic synostosis (MS) is premature fusion of the metopic suture, which is part of the frontal suture. It results in a V-shaped abnormality at the front of the skull. MS may occur in a syndromic or nonsyndromic form. We report on a 24-day-old girl with hypotonia, MS, trigonocephaly, capillary hemangioma, hypotelorism, upward slanting palpebral fissures, epicanthal folds, small nose with anteverted nares, high palate, ankyloglossia, long philtrum, low-set ears, short neck, postaxial polydactyly of both hands and feet and congenital heart defect. Cytogenetic analysis demonstrated trisomy 13 mosaicism; 46,XX[58]/47,XX,+13[42]. Although MS has been previously reported in complete and partial forms of trisomy 13, it has not been reported in mosaic form of trisomy 13. Our report supports the evidence that trisomy 13 causes MS. It also emphasizes the need for cytogenetic investigations in patients presenting with MS and multiple congenital anomalies for providing accurate diagnosis, genetic counseling, and prenatal diagnosis.

A girl with metopic synostosis and trisomy 13 mosaicism: case report and review of the literature.

Epidermoid and dermoid cysts are benign lesions encountered throughout the body; 7% occur in the head and neck area and 1.6% within the oral cavity. The cysts can be defined as epidermoid when the lining presents only epithelium, dermoid cysts when skin adnexa are found, and teratoid cysts when other tissue such as muscle, cartilage, and bone are present. Epidermoid cysts that originate from the suprasternal notch have not been reported previously in the literature. To our knowledge, we are reporting the first case of epidermoid cyst of the suprasternal notch in this study. A 10-year-old girl presented with a lower anterior midline neck mass that had been present for 1 year and that appeared only during coughing. The swelling usually occurred coincident with an intercurrent illness. She had no dysphagia, hoarseness of voice, or shortness of breath. Her medical history revealed acute bronchitis one month before admission. On admission, a physical examination revealed a tense swelling at the suprasternal notch that became apparent only during coughing and Valsalva’s maneuver (Fig 1). The lower border of the mass was not palpable. The mass was immobile during swallowing and was painless; passive pulling on the tongue did not cause a change in the position of the mass. The overlying skin was intact with no discoloration or ulceration. No other neck mass or cervical lymphadenopathy was detected. The remainder of the physical examination was normal. Laboratory examinations, including complete blood count, serum electrolytes, and liver function tests were all within normal limits. Sonography of the neck with the patient performing Valsalva’s maneuver showed a well-circumscribed, capsuled, cystic, hypoechoic mass that measured 2 2 2 cm at the suprasternal notch anterior to the cervical trachea. Magnetic resonance imaging of the neck revealed a well-circumscribed, cystic mass with no relationship to any other tissue at the suprasternal notch measuring 2 2 2 cm. We do not have an IRB; however, informed consent was taken from the patient’s family. The mass was removed by simple excision with the patient under general anesthesia. The wound was closed primarily. The postoperative period

A rare suprasternal cystic neck mass in a pediatric patient: epidermoid cyst.

Duplication cysts are uncommon congenital abnormalities that may occur at all levels of the gastrointestinal tract, from mouth to anus. In most cases, end-to-end anastomosis after segmental resection of a bowel with duplication cysts is the preferred choice of treatment. A 7-monthold female presented with occasional vomiting episodes since birth. Previous medical examinations had revealed no abnormality. She underwent surgical intervention due to acute abdomen with an eventual diagnosis of duplication cyst. In our case, both the caecum and ileocaecal valve were preserved. She was treated with partial excision and removal of the mucosal lining, which is an uncommon treatment approach and the result was satisfactory. We suggest that removal of the caecum and ileocaecal valve along with the cyst is a treatment option; however, alternative treatment options should also be considered.

A Different Treatment Modality for a Caecal Intramural Duplication Cyst in an Infant: Case Report

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A girl with metopic synostosis and trisomy 13 mosaicism: case report and review of the literature.

A rare suprasternal cystic neck mass in a pediatric patient: epidermoid cyst.

A Different Treatment Modality for a Caecal Intramural Duplication Cyst in an Infant: Case Report