Phenotypical characterization of 13q deletion syndrome: Report of two cases.

Patients with 13q deletion syndrome are characterized with different phenotypical features depending on the size and location of the deleted region on chromosome 13. These patients fall into three groups: In Group 1, deleted region is in the proximal and does not extend into q32; in Group 2, deleted region involves proximal to the q32 and in Group 3 q33‑q34 is deleted. We present two cases with 13q syndrome with two different deleted region and different severity on clinical features: One case with interstitial deletion belongs to the Group 1 with mild mental retardation and minor malformations and the other case with terminal deletion belongs to Group 3 with moderate to severe mental retardation and major malformations.

Audiological manifestations in Kabuki (Niikawa-Kuroki) Syndrome

Objective@#To describe the audiological profile, clinical features and briefly summarize the speech and language development of a child with Kabuki syndrome (KS). KS is a rare malformation syndrome that usually presents with mental retardation and multiple congenital anomalies including ear diseases and hearing loss. @*Methods@#Design: Case report Setting: Tertiary Public University Hospital Subject: One patient@*Results@#A five-year-old female diagnosed with KS at age three presented with moderate to severe conductive hearing loss in the right ear with a drop at the high frequencies and moderate to severe conductive sloping hearing loss in the left ear. She also had fluctuating tympanometric findings. She was fit with binaural hearing aids.@*Conclusion@#Ear diseases and hearing loss should immediately be considered in patients diagnosed with KS. A comprehensive audiological and otolaryngological evaluation should also be performed when presented with a KS case.

Síndrome de Weill-Marchesani / Weill-Marchesani syndrome

El síndrome de Weill-Marchesani es un desorden genético poco frecuente del tejido conectivo con afectación ocular. Desde su descripción por Weill y Marchesani en 1932 y 1939, se han descrito patrones de herencia autosómica dominante y recesiva. En general estos pacientes se caracterizan por baja talla, braquidactilia con rigidez articular, microsferofaquia, miopía lenticular progresiva, luxación cristaliniana, y glaucoma secundario. Se presentan las características oftalmológicas y clínicas de una paciente a quien se le diagnosticó este síndrome genético. Procedía de una familia de 4 miembros donde uno de ellos presentaba similares características (padre), no se detectaron malformaciones cardiovasculares asociadas pero se recogen antecedentes de autoagresión. El desempeño del oftalmólogo en su diagnóstico precoz y manejo, es de vital importancia, de esta forma se podría lograr una rehabilitación visual y la consecuente incorporación a una vida socialmente útil.

Weil Marchesani syndrome is a rare genetic disorder of the connective tissue with ocular effect. Since the description of this disease by Weill and Marchesani in 1932 and 1939 respectively, patterns of autosomal dominant and recessive inheritance have been outlined. In general, these patients are characterized by small size, brachydactilia, joint rigidity, microspherophakia, progressive lenticular myopia, crystalline luxation and secondary glaucoma. This paper presented the ophthalmologic and clinical characteristics of a female patient who was diagnosed with this genetic syndrome. She came from a four-member family in which one of them presented with similar characteristics (father); there were not associated cardiovascular malformations, but self-attack history was included. The ophthalmologist's performance in the early diagnosis and management of the disease is of vital importance, because in this way, visual rehabilitation could be materialized, with subsequent incorporation to socially useful life.

Síndrome de Rubinstein-Taybi / The Rubistein-Taybi syndrome

Se presentan las características oftalmológicas y clínicas de una paciente que se concluyó con la presencia del síndrome de Rubinstein-Taybi. Este se incluye dentro de los síndromes genéticos y está basado en el fallo del cromosoma 16. La presentación es poco frecuente y no bien conocida, ya que posee características fundamentales que lo distinguen: dedos de los pies grandes y gruesos, pulgares anchos, exceso de pelo en el cuerpo (hirsutismo), microcefalia, boca estrecha, pequeña con dientes apiñados, nariz prominente o curva, cejas arqueadas y pobladas con pesta±as largas e inclinación palpebral de los ojos.

The ophthalmologic and clinical characteristics of a patient with Rubistein-Taybi syndrome were presented. This is considered one of the genetic syndromes and is based on chromosome 16 failure. The presentation of this syndrome is rather unusual and barely known since the fundamental characteristics that differentiate it are big thick toes, big thumbs, hirsutism, microcephaly, small narrow mouth full of packed teeth, prominent nose, raised and hairy eyebrows, long eyelash and palpebral inclination of eyes.

Síndrome de Noonan: presentación de dos casos / Noonan's syndrome: presentation of two cases

Se presentan las características oftalmológicas y clínicas de dos pacientes hermanos (hembra y varón) con diagnóstico del síndrome de Noonan. Este es un trastorno genético que produce desarrollo anormal de múltiples partes del cuerpo. Se caracteriza por una serie de signos y particularidades físicas que pueden variar ampliamente en rango y severidad según los casos. Generalmente se transmite como un rasgo genético autosómico dominante. Los casos que presentamos se caracterizan por: estenosis valvular pulmonar, hipertelorismo, retardo mental moderado, aspecto típico de la cara con filtrum (surco vertical en el centro del labio superior), párpados gruesos, epicanto, exoftalmos y ptosis palpebral.

The ophthalmological and clinical characteristics of two sibling patients (male and female) diagnosed with Noonan´s syndrome were presented in this paper. This is a genetic disorder that causes abnormal development of many parts of the body. It is characterized by a series of signs and physical peculiarities that may widely vary in range and severity from one case to another. Generally, it is transmitted as a dominant autosomal genetic trait. The two cases had the following features: pulmonary valve stenosis, hypertelorism, moderate mental retardation, typical aspect of the individual's face with filtrum (vertical sulcus located in the center of the upper lip), thick eyelids, epicanthus, exophthalmos and palpebral ptosis.

A Case of an Addition of Chromosome 9 Short Arm Associated with Multiple Congenital Anomalies

Human chromosome 9 is characterized by a high degree of morphologic heteromorphisms, including variation in the size of the heterochromatin. We present a case of a de novo short arm addition of chromosome 9, [46, XY, add(9)(p13)], associated with multiple anomalies, including trigonocephaly, upward slant of the palpebral fissures, patent ductus arteriosus, pulmonary hypertension, hypertrophic cardiomyopathy, umbilical hernia, ambiguous genitalia, and sensorineural hearing and visual loss. This mutation affects the pericentric region of the heterochromatin. This patient exhibited a clinically important breakpoint of the heterochromatic region of chromosome 9 short arm and the associated anomalies.

A Case of Vesicoallantoic Cyst Diagnosed by Prenatal Ultrasonogram Imaging / 대한주산의학회잡지

Fetal vesicoallantoic cyst is extremely rare anomaly of umbilical cord. This disorder is thought to be a remnant of the extraembryonic portion of the allantois and incomplete obliteration of the vesico-allantoic lumen results in a wide spectrum of urachal anomalies. A 23-years-old primigravida was referred to our hospital at 18 weeks of gestation age because of fetal abdominal cystic mass in basal part of umbilicus. On the ultrasonographic examination, the cystic mass appeared to be in direct communication with the urinary bladder markedly distended. The cytogenetic study by amniocentesis showed normal 46, XY. The fetus was dead at 21 weeks of gestation age. The results of autopsy showed multiple anomalies. We report this rare case with review on similar anomalies of the allantois.

A Case of Partial Long Arm Deletion in Chromosome 2 with Multiple Anomalies

Partial long arm deletion in chromosome 2 is a rare disease in world-wide. The disease is characterized by multiple anomalies of craniofacial, extremities, cardiovascular system, hypotonia and mental retardation. We report a premature infant with long arm deletion of chromosome 2 who was diagnosed by clinical features and chromosomal analysis [46, XX, del(2)(q36-ter)]. She had multiple anomalies including microcephaly, frontal bossing, micropthalmia, low set ear, short webbed neck, horseshoe kidney, ventriculomegaly and cardiac anomalies of patent ductus arteriosus, atrial septal defect, ventricular septal defect, and pulmonary hypertension. A brief review of literature is included.

A Case of Deletion 9p Syndrome

Since Alfi et al. first described the 9p deletion syndrome in 1973, approximately 40 cases with deletion of the chromosome 9p have been reported. These patients have multiple anomalies in craniofacies, limbs, and cardiovascular system, and mental retardation. In most cases, the breakpoint is located at the band 9p22 and the deletion is de novo. We report a neonate with 9p deletion syndrome diagnosed by clinical features and chromosomal analysis. He had multiple anomalies such as up slanting of palpebral fissures, epicanthal folds, arched eyebrows, anteverted nares, cleft palate, micrognathia, pectus excavatum, widely spaced nipples, cryptorchidism, atrial septal defect, tricuspid regurgitation (grade : III) and persistent muscle hypotonia.