Radio-ulnar synostosis,short stature,microcephaly, scoliosis,and mental retardation

We report on a 9-year-old boy with radioulnar synostosis, short stature, microcephaly, soliosis, and mental retardation. We propose that he has a new syndrome. © 1995 Wiley-Liss, Inc.     

New syndrome of macrocephaly,hypertelorism, short limbs,hearing loss,and developmental delay

We describe a boy with an apparently unique constellation of anomalies, including macrocephaly, short stature, relatively short limbs, hearing loss, developmental delay, sparse anterior scalp hair, hypertelorism, downslanting palpebral fissures, and a short nose with a broad, flat nasal bridge and anteverted nares. Chromosomes were normal and radiographs failed to show a bone dysplasia. We conclude that this represents a new syndrome. © 1995 Wiley-Liss, Inc.     

Mumps outbreak investigation in Jaisalmer,Rajasthan, India,June-September 2016

Mumps, a vaccine-preventable disease, cause inflammation of salivary glands and may cause severe complications, such as encephalitis, meningitis, deafness, and orchitis/oophoritis. In India, mumps vaccine is not included in the universal immunization program and during 2009 to 2014, 72 outbreaks with greater than 1500 cases were reported. In August 2016, a suspected mumps outbreak was reported in Jaisalmer block, Rajasthan. We investigated to confirm the etiology, describe the epidemiology, and recommend prevention and control measures. We defined a case as swelling in the parotid region in a Jaisalmer block resident between 23 June 2016 and 10 September 2016. We searched for cases in health facilities and house-to-house in affected villages and hamlets. We tested blood samples of cases for mumps immunoglobulin M (IgM) enzyme-linked immunosorbent assay (ELISA). We found 162 cases (60% males) with a median age of 9.4 years (range: 7 month-38 years) and 65 (40%) were females. Symptoms included fever (70%) and bilateral swelling in neck (65%). None of them were vaccinated against mumps. Most (84%) cases were school-going children (3-16 years old). The overall attack rate was 2%. Village A, with two hamlets, had the highest attack rate (hamlet 1 = 13% and hamlet 2 = 12%). School A of village A, hamlet 1, which accommodated 200 children in two classrooms, had an attack rate of 55%. Of 18 blood samples from cases, 11 tested positive for mumps IgM ELISA. This was a confirmed mumps outbreak in Jaisalmer block that disproportionately affected school-going children. We recommended continued surveillance, 5-day absence from school, and vaccination.     

Short stature, moderate mental retardation, hyperactivity, facial dysmorphism, skeletal abnormalities, and exaggerated ketosis: a new syndrome

We describe three siblings who presented with short stature, hyperactivity, delayed speech and moderate psychomotor retardation. In addition, they had dysmorphic features, a peculiar combination of skeletal abnormalities, small kidneys and exaggerated fasting ketosis. We suggest that they represent a new syndrome. The possibility of end-organ receptor failure is suggested.     

Short stature, abnormal ears, monodactylous tetraectrodactyly, cleft palate in a Brazilian boy

We report on a Brazilian boy presenting short stature, small ears with mild overfolding of the helices, monodactylous tetraectrodactyly and cleft palate. We suspect that he has a previously undescribed syndrome of presently unknown cause.     

Diaphragmatic hernia,exomphalos, absent corpus callosum,hypertelorism, myopia,and sensorineural deafness: A newly recognized autosomal recessive disorder?

We describe unrelated male and female patients with an identical syndrome of diaphragmatic hernia, exomphalos, hypertelorism, agenesis of the corpus callosum, severe sensorineural deafness, and severe myopia. One child had an iris coloboma. After the birth of the first affected child in each family subsequent pregnancies were monitored with ultrasound scan and a further affected fetus was identified in both families. We conclude that this constellation of anomalies represents a distinct, previously unreported syndrome with likely autosomal recessive inheritance. © 1993 Wiley-Liss, Inc.     

Familial occurrence of ptosis,nasal speech,prominent ears,hand anomalies and learning problems

We describe a four-generation family in whom 5 members show the combination of a large head, ptosis, nasal speech that sometimes goes along with a cleft palate, full cheeks, small mouth, and prominent ears, and who also have learning problems. We evaluated three affected members in detail and found them to have in addition a partial cutaneous syndactyly between the third and fourth fingers, an increased distance between second and third finger, and a decreased smell.We have not been unable to find other patients described in literature with the same combination of features, and suggest this to represent a hitherto unrecognizable entity. Pattern of inheritance is likely to be autosomal dominant.     

Narratives, Mindfulness, and the Implicit Audience

We argue that the self-directed attention involved in narrative writing may heighten awareness in a manner similar to other mindfulness methods. Further, narrative writing may help to transform implicit, unconscious thoughts, memories, perceptions, and emotions into more explicit and conscious processes. This transformation is facilitated by the integration of language with experience and by the connections made between different aspects of experience and identity. We also note that the question of for whom one is writing—in other words, the implicit audience—may play a contributing role in the effectiveness of the narrative task. We offer suggestions for future research to explore our ideas.     

Brachydactyly,mesomelia, mental retardation,aortic dilatation,mitral valve prolapse,and characteristic face

We report on a male with brachydactyly, thin habitus with narrow shoulders, mesomelic shortness of the arms, long lower face with obtuse mandibular angle, maxillary hypoplasia with beaking of the nose, aortic root dilatation, and mitral valve prolapse. This combination of findings has not been reported previously. © 1993 Wiley-Liss, Inc.     

Macrostomia, ectropion, atrophic skin, hypertrichosis: another observation

We report on a boy with bilateral ectropion, ocular hypertelorism, bulbous nose, macrostomia with thin lips, abnormal ears, hypertrichosis of the forehead, neck and back, atrophic skin with hypoplastic nipples. Cause and inheritance are unknown.     

Short stature,Robin sequence,cleft mandible,pre/postaxial hand anomalies,and clubfoot: A new autosomal recessive syndrome

We report on 5 unrelated Brazilian children with short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. Genetic aspects and phenotypic manifestations are compared with those of previous reports of acrofacial dysostoses and with other Robin sequence syndromes. We suspect that these patients present a previously undescribed autosomal recessive syndrome.     

Syndrome of a craniofacial dysostosis, limb malformation, and omphalocele

We describe an infant with a unique combination of a severe craniofacial dysostosis and a very distinctive facies, severe limb defects, a thoracic deformity, and an omphalocele as the major anomalies. We propose that this represents a "new" syndrome of multiple congenital abnormalities.     

Unknown syndrome: microcephaly, hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, low set ears, and osteosclerosis.

We report a neonate, born at term, with microcephaly, a hypoplastic nose, exophthalmos, gum hyperplasia, cleft palate, and low set ears, who died at 86 minutes of age. Radiographs showed diffuse sclerosis of the bones.     

Acculturation, depressive symptoms, estriol, progesterone, and preterm birth in Hispanic women

We examined the effects of acculturation, depressive symptoms, progesterone, and estriol (E3) as predictors of preterm birth (PTB) in pregnant Hispanic women. This cross-sectional study recruited a sample of 470 Hispanic women between 22- and 24-week gestation from physician practices and community clinics. We used the CES-D to measure maternal depressive symptoms. We measured acculturation by English proficiency on the Bidimensional Acculturation Scale, residence index by years in the USA minus age, nativity, and generational status. Serum progesterone and E3 were analyzed by EIA. Ultrasound and medical records determined gestational age after delivery. In χ ² analysis, there were a significantly greater percentage of women with higher depressive scores if they were born in the USA. In a structural equation model (SEM), acculturation (English proficiency, residence index, and generational status) predicted the estriol/progesterone ratio (E/P), and the interaction of depressive symptoms with the E/P ratio predicted PTB. Undiagnosed depressive symptoms during pregnancy may have biological consequences increasing the risk for PTB.     

Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: a new autosomal recessive syndrome.

We report on 5 unrelated Brazilian children with short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot. Genetic aspects and phenotypic manifestations are compared with those of previous reports of acrofacial dysostoses and with other Robin sequence syndromes. We suspect that these patients present a previously undescribed autosomal recessive syndrome.     

Mental retardation, microbrachycephaly, hypotelorism, palpebral ptosis, thin/long face, cleft lip, and lumbosacral/pelvic anomalies.

We describe 2 Brazilian sisters with a combination of clinical signs strongly suggesting a new autosomal recessive MCA/MR syndrome.     

Scalp defects, polythelia, microcephaly, and developmental delay: a new syndrome with apparent autosomal dominant inheritance

We report a family with apparent autosomal dominant inheritance of scalp defects, polythelia, microcephaly, and developmental delay. A review of the literature revealed no previous report of this combination of anomalies. We conclude that these patients have a new autosomal dominant syndrome.     

Phocomelia,oligodactyly, and acrania: The Schinzel-Phocomelia syndrome

We report on a girl born with phocomelia of both lower limbs, with 3-toed feet and partial sacral agenesis. She had normal growth of the upper limbs and trunk, and normal intelligence. Ultrasound study performed during the subsequent pregnancy documented a large skull defect with an intact brain. Fetal autopsy following the termination of that pregnancy was not done. We think this is a further report of the phocomelia syndrome with additional anomalies as reported by Schinzel [Hum Genet 84:539–541, 1990]. © 1993 Wiley-Liss, Inc.     

New autosomal recessive lethal disorder with polycystic kidneys type Potter I,characteristic face,microcephaly, brachymelia,and congenital heart defects

We report on 3 pairs of sibs from unrelated families, who present with polycystic kidneys Potter type I claimed to be specific for the ARPKD, and with microbrachycephaly, hypertelorism with telecanthus, large posteriorly angulated fleshy ears and various congenital malformations including congenital heart defects. We suggest that they represent a previously unrecognized autosomal recessive lethal developmental disorder within the group of infantile polycystic kidney disease and Potter sequence. © 1993 Wiley-Liss, Inc.