synostosis/seizures

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Metopic synostosis: evaluation of aesthetic results.

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Analysis of intermediate- and long-term results of surgical treatment of metopic synostosis is lacking. We therefore retrospectively studied 23 patients with metopic synostosis (14 males, 9 females) who have been followed from 3 months to 8.1 years (mean 42.5 months) after operation. Age at first

Twenty-year experience with early surgery for craniosynostosis: II. The craniofacial synostosis syndromes and pansynostosis--results and unsolved problems.

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As the second of a two-part series, 76 patients with pansynostosis and craniofacial synostosis syndromes were retrospectively analyzed. Diagnoses included pansynostosis (7), craniofrontonasal dysplasia (8), and Apert (24), Crouzon (15), and Pfeiffer (15) syndromes. All patients underwent primary

Twenty-year experience with early surgery for craniosynostosis: I. Isolated craniofacial synostosis--results and unsolved problems.

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Early surgery for isolated craniosynostosis is designed to improve morphology, to prevent functional disturbances, and equally important, to enhance the psychosocial development of the child. As the first of a two-part series, 104 patients with isolated craniofacial synostosis were retrospectively

Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.

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Exome sequencing identified homozygous loss-of-function variants in DIAPH1 (c.2769delT; p.F923fs and c.3145C>T; p.R1049X) in four affected individuals from two unrelated consanguineous families. The affected individuals in our report were diagnosed with postnatal microcephaly, early-onset epilepsy,

Evaluation of the necessity of postoperative imaging after craniosynostosis surgery.

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OBJECTIVE Childhood radiation exposure increases the lifetime risk of cancer from an estimated 0.07 to 0.35%. Neurological evaluation of patients after cranial vault reconstruction for synostosis repair is often complicated by pain medication, sedation, intubation, swelling, and dressings; therefore

Trigonocephaly in a boy with paternally inherited deletion 22q11.2 syndrome.

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Deletion 22q11.2 syndrome is a well-known contiguous gene syndrome, for which the list of findings is extensive and varies from patient to patient. We encountered a unique patient who had a familial 3-Mb deletion 22q11.2 associated with trigonocephaly derived from craniosynostosis of the metopic

Say-Meyer syndrome: additional manifestations in a new patient and phenotypic assessment.

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BACKGROUND In 1981, Say and Meyer described a seemingly X-linked recessive syndrome of trigonocephaly, short stature, and developmental delay. Here, I present a new patient and review eight patients from the literature examining the nature and phenotypic differences. METHODS A Mexican 10-year-old

Muenke syndrome with pigmentary disorder and probable hemimegalencephaly: An expansion of the phenotype.

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We describe a 2-year-old boy born to healthy, consanguineous parents. He had craniofacial asymmetry with left frontal bossing, midface hypoplasia, proptosis, and low-set ears. In addition, he had curly, light hair, and oval hypomelanotic patches in the abdomen, lower limbs and back and one

Surgical Correction of Unicoronal Craniosynostosis with Frontal Bone Symmetrization and Staggered Osteotomies.

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Craniosynostosis is the premature fusion of one or more cranial sutures that produce abnormal head shape. Plagiocephaly is a general term that describes unilateral flattening of the anterior or posterior quarter of the cranium. Anterior plagiocephaly is almost always due to unilateral

Slit ventricle syndrome and early-onset secondary craniosynostosis in an infant.

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METHODS Female, 14 months METHODS Slit ventricle syndrome Symptoms: Hydrocephalus • lethargy and seizure • vomiting METHODS - Clinical Procedure: - Specialty: Pediatrics and Neonatology. OBJECTIVE Challenging differential diagnosis. BACKGROUND Shunt surgery is a common solution for hydrocephalus in

Gomez-Lopez-Hernandez syndrome (cerebello-trigeminal-dermal dysplasia): description of an additional case and review of the literature.

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Gomez-Lopez-Hernandez syndrome is a very rare genetic disorder with a distinct phenotype (OMIM 601853). To our knowledge there have been seven cases documented to date. We report on an additional male patient now aged 15 8/12 years with synostosis of the lambdoid suture, partial scalp alopecia,

Juberg-Hayward syndrome and Roberts syndrome are allelic, caused by mutations in ESCO2

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Objective: Juberg-Hayward syndrome (JHS; MIM 216100) is a rare autosomal recessive malformation syndrome, characterized by cleft lip/palate, microcephaly, ptosis, hypoplasia or aplasia of thumbs, short stature, dislocation of radial head,

Juberg-Hayward syndrome: a new case report and clinical delineation of the syndrome.

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We report a new case of Juberg-Hayward (orocraniodigital) syndrome (JHS). This 7-year-old Thai boy had characteristic features together with a number of newly recognized findings. Those findings are humeroradial synostosis (HRS), carpal anomalies, simian crease, brachydactyly A4, widely spaced

A rare case of short stature: Say Meyer syndrome.

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BACKGROUND Say Meyer syndrome is rare X linked condition characterized by developmental delay, short stature and metopic suture synostosis. We are reporting a case of Say Meyer syndrome presented to our hospital for short stature and developmental delay at age 3½ years. METHODS A 3½-year-old boy

Pediatric National Surgical Quality Improvement Program: Useful for Quality Improvement in Craniosynostosis Surgery?

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The American College of Surgeons and the American Pediatric Surgical Association collaborate to provide pediatric hospitals with multispeciality surgical outcomes data through the Pediatric National Surgical Quality Improvement Program (NSQIP Peds). The authors used this national multicenter

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