The Floating Harbor syndrome with cardiac septal defect

The Floating Harbor syndrome of short stature, very delayed bone age, expressive language delay, and characteristic facial changes has not been associated with cardiac anomalies, except for one patient with pulmonic stenosis. We report on a 10-year-old boy with the syndrome and tetralogy of Fallot with atrial septal defect. © 1996 Wiley-Liss, Inc.     

Uniparental disomy in congenital disorders: A prospective study

Whole chromosome uniparental disomy (UPD) for several different chromosomes has been described in individuals with phenotypes that encompass a broad range of abnormalities. We prospectively searched for UPD in 25 cytogenetically normal individuals who had one or more of the following features: nonsyndromic multiple congenital anomalies, short stature, mental retardation, or dysmorphic findings. Using highly polymorphic microsatellite repeats, biparental inheritance of at least one locus on every chromosome was found in every individual and uniparental inheritance was not detected at any locus. If UPD does exist in this clinical setting, its frequency is less than 13.7% (95% confidence interval). Our data indicate that additional studies will be required to determine the true incidence of UPD in this population. © 1995 Wiley-Liss, Inc.     

Novel findings in a patient with Weaver or a Weaver-like syndrome

We report on a young male patient with an overgrowth syndrome, who had normal birth weight. He had a number of manifestations typical of the Weaver syndrome (WS), such as advanced bone age, peculiar craniofacial appearance, and camptodactyly. He also showed severe mental and speech retardation and demineralisation of the bones of the hands and feet. The latter can be considered as unreported manifestations of WS, or the patient could represent an example of a new WS-like syndrome. © 1996 Wiley-Liss, Inc.     

Smith-Fineman-Myers syndrome in apparently monozygotic twins

We report on two boys, monozygotic twins born to normal and nonconsanguineous parents, presenting with an unusual facial appearance, cortical atrophy, dolichocephaly, short stature, cleft palate, micrognathia, prominent upper central incisors, bilateral Sidney line, minor foot deformities, unstableness in walking, early hypotonia, hyperreflexia, hyperactivity, psychomotor retardation, and severe delay in language development. These manifestations resemble those previously described in the Smith-Fineman-Myers syndrome. Am. J. Med. Genet. 79:205–208, 1998. © 1998 Wiley-Liss, Inc.     

A novel phenotype characterized by digital abnormalities,intellectual disability,and short stature in a Mexican family maps to Xp11.4–p11.21

The family observed in this study included affected males and asymptomatic females. The patients shared specific digital abnormalities including postaxial polydactyly, cutaneous syndactyly, and brachydactyly. In addition, the patients exhibited mild‐to‐moderate intellectual disability and short stature coupled with microbrachycephaly, scoliosis, and cerebellar and renal hypoplasia. No chromosomal alterations or copy number variations were found in the index case. The genetic linkage analysis, which focused on the X chromosome, and the haplotype analysis detected a ～15.74 Mb candidate region located at Xp11.4–p11.21 with a LOD score of 4.8. Additionally, half of the mothers showed skewed X‐inactivation, while the other mothers exhibited random inactivation patterns. The candidate region includes 28 protein‐encoding genes that have not yet been implicated in human disorders. We speculate that the observed phenotype is compatible with a monogenic disorder in which the mutant gene plays a significant role during embryonic development. Based on the patients' clinical features, image studies, pedigree, chromosome location, and X‐inactivation studies in the mothers, we propose that this family has a novel, specific syndrome with an X‐linked recessive mode of inheritance. © 2013 Wiley Periodicals, Inc.     

The syndrome of Yunis and Varón—report of a further case

We describe a boy with short stature, mental retardation, microcephaly, micrognathia, sparse hair, hypoplastic fingers and thumbs, distal aphalangia of the toes, and a hypoplastic clavicle. The pattern of anomalies corresponds closely to that found in five other children by Yunis and Varón.     

Interstitial deletion 2q33.3-q34 in a boy with a phenotype resembling the Seckel syndrome

A boy presented at 5 weeks with a syndrome of pre- and postnatal growth retardation, microcephaly, muscular hypotonia, and facial anomalies resembling those seen in Seckel syndrome or microcephalic primordial dwarfism I. Analysis of prometaphase chromosomes, fluorescent in situ hybridization (FISH), and molecular studies showed the presence of a de novo chromosome 2 deletion that could be defined as del(2)(q33.3q34)pat. Parental chromosomes were normal, except for the presence of a paternal supernumerary marker identified by FISH as der(15). On follow-up of the patient during the next months length development appeared normal and the diagnosis of Seckel syndrome was withdrawn. Clinical findings of previously published cases with interstitial deletion of at least 2q33.3-q34, the deletion present in the propositus, are reviewed and include pre- and postnatal growth retardation, psychomotor retardation, microcephaly, micrognathia, and abnormal/low-set ears; findings also present in the propositus. These findings resemble those described in the Seckel syndrome. Noteworthy is the finding that 2/3 of the 60 reviewed cases originally reported as having Seckel syndrome apparently belong to a heterogeneous group of low birth weight microcephalic dwarfism I yet to be clearly defined. In these patients no chromosome 2q deletion has been reported so far. Retrospective analysis could show if a subgroup of these patients carry submicroscopic deletions at 2q33.3-q34. Alternatively, molecular analysis of this region may be warranted in newly diagnosed patients with Seckel syndrome- like manifestations. Am. J. Med. Genet. 71:479–485, 1997. © 1997 Wiley-Liss, Inc.     

Brief clinical report: A further patient with the Pitt-Rogers-Danks syndrome of mental retardation,unusual face,and intrauterine growth retardation

A further case of a syndrome of pre- and postnatal growth retardation, characteristic face, and unsual palmar creases is described. This child also had hypoplasia of labia majora and minora, deafness, and head nodding. Apparently sporadic occurrence in this family does not rule out autosomal recessive inheritance of this syndrome first described by Pitt, Rogers, and Danks in 1984.     

Hallux duplication,postaxial polydactyly,absence of the corpus callosum,severe mental retardation,and additional anomalies in two unrelated patients: A new syndrome

Two unrelated patients, a 4-year-old boy and a 2 1/2-year-old girl, presented with a similar pattern of abnormalities. Both had severe mental retardation, macrocephaly, absence of the corpus callosum, unusual facial appearance, duplication of hallucal phalanges, postaxial hexadactyly of finger phalanges, and 2/3-syndactyly of toes. The boy also had postaxial hexadactyly of toe phalanges, inguinal hernias and umbilical hernia, and growth retardation. We suspect a common cause of this apparently “new” syndrome, most likely a gene mutation.     

Rambam–Hasharon syndrome of psychomotor retardation,short stature,defective neutrophil motility,and bombay phenotype

We describe 2 Arab patients, both offspring of unrelated consanguineous matings, with unusual facial appearance, severe mental retardation, microcephaly, cortical atrophy, seizures, hypotonia, dwarfism, and recurrent infections with neutrophilia. Neutrophil motility was markedly decreased but the opsonophagocytic activity was normal. Both patients lack the red blood cell (RBC) H antigen and manifest the Bombay (hh) phenotype. Familial endocardial fibroelastosis and familial tetralogy of Fallot segregated independently in one family. The occurrence of the same syndrome in 2 unrelated families suggests that the various aspects of the disorder are the pleiotropic effects of a single mutation. Homozygosity-by-descent for a deletion involving contiguous genes may explain the findings in this syndrome. Alternatively, a mutation which involves an ubiquitous GDP fucose donor rather than the enzyme (α₂-L -fucosyltransferase) or its substrate (glcNAc) may account for the pleiotropic manifestations in this syndrome. © Wiley-Liss, Inc.     

Apparently new MCA/MR syndrome in sibs with cleft lip and palate and other facial,eye, heart,and intestinal anomalies

We report on a sister and brother with severe mental retardation, bulbous tip of the nose, long columella, cleft lip and palate, heart and intestinal anomalies, and growth retardation. This appears to be a previously unreported, autosomal recessive condition, given high resolution prometaphase chromosomes are normal.