Clinical characteristics of X-linked infantile nystagmus in a Chinese family / 上海交通大学学报（医学版）

Objective • To identify the clinical features of a Chinese Han family with X-linked infantile nystagmus. Methods • A Chinese family with X-linked infantile nystagmus was recruited from Department of Ophthalmology in Xinhua Hospital, Shanghai Jiao Tong University School of Medicine. Peripheral blood from the members of the family was collected and molecular genetic analysis was done. The 5 patients in the family received comprehensive ocular examinations including measurement of visual acuity, degree of anomalous head posture, stereoscopic vision, binocular function, electroretinogram, visual evoked potential, optical coherence tomography, eye movement recording and cycloplegic refraction. Results • A frame-shift mutation (c.823-829delACCCTAC, p.Thr275fs) in the 9th exon of FERM domain containing protein 7 (FRMD7) in the family was found. The similar clinical features of the family included moderate impairment of visual acuity, mild astigmatism, reduced stereoscopic vision, no fusion function, and bidirectional jerk wave form. Their electroretinograms were normal, but there was a peak latency and decreased amplitudes in visual evoked potential. And the structures of maculae had no obvious abnormality. The performance of the anomalous head posture was varied. Conclusion • Thr275fs in FRMD7 protein is identified as the main factor in the Chinese family with X-linked infantile nystagmus. The clinical features of the family show a certain degree of consistency.

Oral–facial–digital syndrome type 1: a review.

The oral–facial–digital syndromes result from the pleiotropic effect of a morphogenetic impairment affecting almost invariably the mouth, face and digits. Other organ systems can be involved, defining specific types of OFDS. To date, 13 types have been distinguished based on characteristic clinical manifestations. The oral–facial–digital syndrome type I is discussed in detail with emphasis on clinical features, molecular genetics and diagnosis.

Incontinentia Pigmenti In A Male Newborn - A Rare Presentation.

Incontinentia Pigmenti (IP) is an X-linked dominant disorder, frequently affecting females and lethal in males. Here, we report one case where a male developed vesicular eruptions along the blaschko lines on his back within few hours of birth, clinically diagnosed as a case of incontinentia pigmenti, confirmed later on with histopathological findings.

Incontinencia pigmenti en madre e hija: relato de caso clínico / Mother and daughter incontinentia pigmenti: case report

Incontinentia pigmenti (IP) is a rare genodermatosis linked to the X chromosome. It affects variably all tissues derives from neuroecthoderm such as skin, hair, nails, eyes and central nervous system. Early diagnosis allows the study of eventual multisystem involvement. Clinical case: We describe a 6 m.o. girl, controlled from the first week of life for a dermatological feature characterized by linear lesions, which were vesicular, then verrucous, and finally hyperpigmented. IP diagnostic family, determined by maternal history of similar lesions.

La incontinentia pigmenti (IP) es una genodermatosis rara ligada al cromosoma X. Afecta en forma variable a los tejidos derivados del neuroectodermo, como la piel, pelos, uñas, ojos y el sistema nervioso central. Su conocimiento y diagnóstico precoz permite estudiar un eventual compromiso multisistémico. Describimos el caso de una niña de 6 meses de edad, controlada desde la primera semana de vida por un cuadro dermatológico caracterizado por lesiones lineales vesiculosas, verrucosas y posteriormente hiperpigmentadas. Se plantea el diagnóstico de IP familiar, determinado por antecedentes maternos de lesiones similares.

Oculo-facio-cardio-dental syndrome in a girl and her mother.

Congenital heart defects are known to be associated with facial dysmorphism and other congenital anomalies. Oculo-facio-cardio-dental (OFCD) syndrome is one such rare multiple congenital anomaly syndrome inherited as an X-linked dominant condition characterized by congenital cataracts, multiple minor facial dysmorphic features, congenital heart defects and dental anomalies. It is unrecognized by many medical and dental professionals. Only 21 cases have been reported so far. This syndrome is often misrecognized as rubella embryopathy because of association of congenital cataract with cardiac anomalies. It is usually the orthodontists who diagnose the syndrome based on typical findings on dental panoramic radiographs. But we suspected our patient to be having OFCD syndrome based on typical facial dysmorphism, ocular and cardiac defects, and finally it was confirmed after noticing typical dental radiographic findings.

Hipoplasia dérmica focal (Síndrome de Goltz): amplia variabilidad fenotípica / Focal Dermal Hypoplasia (Goltz's Syndrome): Wide Phenotypic Variability

La hipoplasia dérmica focal (MIM# 305600), también llamada hipoplasia mesoectodérmica, es una rara entidad genética con un mecanismo de herencia dominante ligado al cromosoma X. Principalmente compromete piel, sistema esquelético, ojos y cara, con diferentes grados de severidad. Se describe dos casos clásicos e ilustrativos de hipoplasia dérmica focal, observando la amplia heterogeneidad fenotípica que estos pacientes pueden presentar. Hasta el momento es el segundo reporte en la literatura indexada de Colombia. Se realiza una amplia y actualizada revisión de la literatura.

The focal dermal hypoplasia (MIM # 305600), also called mesoectodermica hypoplasia is a rare disease. It is thought to be an X-linked dominant disorder. Mainly undertakes skin, skeletal system, eyes and face, with varying degrees of severity. We describe two cases illustrative of classical and focal dermal hypoplasia, noting the extensive phenotypic heterogeneity that these patients may present. So far is the second report in the literature indexed in Colombia, is a comprehensive and updated review of the literature.

Rett Syndrome: A Case Report.

Rett Syndrome (RS) is a neurodevelopmental disorder in which girls are predominantly affected, transmitted as an X linked dominant inheritance and caused by mutation in MECP2 gene. The basic presentation in RS is regression of previously acquired developmental milestones, lack of social interaction skills and acquired microcephaly after a certain age, which starts in early months of infancy. It is frequently misdiagnosed as autism, cerebral palsy or nonspecific developmental delay and is relatively frequent cause of delayed development in girls. Diagnosis is mainly clinical after excluding the neurodegenerative and other causes of delayed milestones. The chromosomal analysis, confirmatory tool for diagnosis is available in limited centers. The treatment is mainly speech therapy and counseling though few pharmacological agents have been tried with little response. A ten years age girl presented with the history of seizures, regression of speech and delayed motor milestones in our out patient clinic which was subsequently diagnosed as Rett Syndrome.

Incontinentia pigmenti: Report of 3 cases from Sarawak

Incontinentia pigmenti, also known as Bloch-Sulzberger syndrome, is a rare X- linked dominant multisystem disease involving ectodermal structures namely cutaneous, ocular, dental, neurological and skeletal systems1. Mutation of the nuclear factor kappa B essential modulator (NEMO) gene in chromosome Xq28 is determined to cause this rare genodermatosis2. The cutaneous manifestations are the most characteristic features of this disorder3. We would like to report 3 cases of incontinentia pigmenti seen in the skin clinic, Sarawak General Hospital.

A Case of X-linked Dominant Chondrodysplasia Punctata / 대한피부과학회지

X-linked dominant chondrodysplasia punctata is a rare congenital disorder characterized by transient punctate epiphyseal calcifications and ichthyotic skin changes, usually resolving during early infancy. We experienced a baby girl born with a thickened and diffusely red integument with adherent scales following the lines of Blaschko and punctata calcification, flat nose. We report a case of condrodysplasia punctata, X-linked dominant type which was confirmed with gene study.

PHEX Gene Mutations and Genotype-Phenotype Analysis of Korean Patients with Hypophosphatemic Rickets

X-linked hypophosphatemic rickets (XLH) results from mutations in the PHEX gene. Mutational analysis of the PHEX gene in 15 unrelated Korean patients with hypophosphatemic rickets revealed eight mutations, including five novel mutations, in nine patients: two nonsense mutations, two missense mutations, one insertion, and three splicing acceptor/donor site mutations. Of these, c.64G>T, c.1699C>T, c.466_467 insAC, c.1174-1G>A, and c.1768+5G>A were novel mutations. To analyze the correlation between genotype and phenotype, phenotypes were compared between groups with and without a mutation, in terms of mutation location, mutation type, and sex. Skeletal disease tended to be more severe in the group with a mutation in the C-terminal half of the PHEX gene, but no genotype-phenotype correlation was detected in other comparisons. Further extensive studies of the PHEX gene mutations and analyses of the genotype-phenotype relationships are required to understand PHEX function and the pathogenesis of XLH.

Incontinentia Pigmenti in a Mother and her Daughter

Incontinentia pigmenti (IP) is a rare multisystemic ectodermal disorder, which is characterized by vesicular, verrucous, and pigmented cutaneous lesions, and is frequently associated with various developmental defects of the eye, CNS, teeth, hair, and nail. It is regarded as an X-linked dominant genetic disorder. We recently experienced a case with IP, who presented with irregular, reticular, and slate-gray to brown colored pigmentation on the whole body at birth. Skin lesions were much improved by 6 month of age. The mother of this infant had the history of same cutaneous lesions in her neonatal period, suggesting that these lesions had familial tendency.