Osteoporosis-pseudoglioma syndrome

Two patients with osteoporosis pseudoglioma syndrome are described. Both are single children, born to nonconsanguineous, healthy parents. The first patient, a 17-year-old girl, had serious visual impairment since birth. She is severely dwarfed and has major skeletal deformities resulting in inability to walk since age 2 years. The second patient is an 18-year-old girl with unilateral neonatal blindness, short stature and deformities, mainly of pelvis and lower limbs. She has been able to walk with support up to now. The clinical and radiological findings in these 2 patients reflect the clinical variability of the condition. Results of collagen studies in both patients are normal and differentiate this condition clearly from severe osteogenesis imperfecta, which it resembles. © 1993 Wiley-Liss, Inc.     

Mutchinick syndrome in a Japanese girl

We report on a 7-year-old Japanese girl with Mutchinick syndrome, a rare congenital malformation syndrome described in a pair of Argentinean sisters and a pair of German brothers; both originating from the same geographic region in the former East Prussia. The girl we describe had most of the clinical manifestations of the syndrome, including growth and developmental retardation, and craniofacial anomalies with microcephaly, hypertelorism, a broad straight nose, low-set malformed ears, and a wide, tented mouth. She also had the following hitherto undescribed manifestations: ventricular septal defect, palmoplantar hyperkeratosis, bilateral partial soft-tissue syndactyly of second and third toes, and megaloureters. The occurrence of the syndrome in a Japanese girl indicates that the syndrome is not restricted to the descendants of individuals from a confined region in northeastern Europe.     

Syndrome of partial aniridia, cerebellar ataxia, and mental retardation--Gillespie syndrome

Here we describe a 5-year-old girl with Gillespie syndrome of cerebellar ataxia, partial aniridia, and mental retardation. The Gillespie syndrome probably is an autosomal recessive trait.     

Prader-Willi syndrome in two siblings: one with normal karyotype, one with a terminal deletion of distal Xq

Two sibs, a 13-year-old girl and an 11-year-old girl, with typical clinical features of the Prader-Willi syndrome (PWS) are reported. High-resolution chromosome analysis showed the normal karyotype in the elder sister, and 46,X,del(X)(pter----q26.1:) in the younger sister. But an interstitial deletion of 15q was not detected in either of the cases. PWS is most probably an etiologically heterogeneous syndrome consisting of two subgroups, with partial deletion and non-deletion of chromosome 15, respectively.     

Syndrome of partial aniridia,cerebellar ataxia,and mental retardation—Gillespie syndrome

Here we describe a 5-year-old girl with Gillespie syndrome of cerebellar ataxia, partial aniridia, and mental retardation. The Gillespie syndrome probably is an autosomal recessive trait.     

Monosomy 18q syndrome and atypical Rett syndrome in a girl with an interstitial deletion (18)(q21.1q22.3)

We describe a 6 1/2-year-old girl with an interstitial deletion of chromosome arm 18q (18q21.1q22.3). Her clinical manifestations are a combination of those found in monosomy 18q syndrome and those of Rett syndrome. Cytogenetic analysis demonstrated a deletion of the long arm of chromosome 18, defined by molecular analysis with polymorphic markers as a de novo interstitial deletion, paternally derived. The findings typical of the 18q- syndrome included mental retardation, midface hypoplasia, and hypoplasia of labia majora, and those typical of Rett syndrome were severe mental retardation, autistic behavior, inappropriate hand-washing movements, epilepsy, attacks of sighing and hyperventilation, and progressive scoliosis since the age of 5 years. She did not have microcephaly, and the mental delay was obvious from an early age without a period of normal development, which makes the diagnosis of Rett syndrome atypical. Previously, a girl with mosaicism for a monosomy 18q associated with Rett syndrome has been described. That girl had a terminal deletion of chromosome 18q, which seems to coincide in part with that in the present girl. It is possible that genes in the distal region of 18q are involved in the etiology of Rett syndrome.     

The costello syndrome: Report of a case and review of the literature

Summary A 5-year-old girl with the Costello syndrome is reported. Her clinical manifestations included growth and developmental delay, a distinct facial appearance with sparse and curly hair, nasal papillomata, and dark loose skin of the hands and feet. These manifestations, especially nasal papilloma, an age-dependent anomaly, are distinct in the Costello syndrome.     

A new case of Grange syndrome without cardiac findings

Grange syndrome comprises arterial stenoses with hypertension, brachysyndactyly, bone fragility, learning disability, and cardiac defects. To date, we know of two reported families with five affected individuals. We report on one of the youngest cases, in a third family, a 3-year-old girl with brachysyndactyly, renal artery stenosis with hypertension, and bone fragility. She does not have apparent cardiac disease, suggesting cardiac anomalies may not be an obligatory finding in this syndrome.     

A specific syndrome due to deletion of the distal long arm of chromosome 1

We have studied 2 patients with de novo deletion 1 (q42.3----qter): a 5 1/2-year-old boy and an unrelated 1 9/12-year-old girl. The analysis of the phenotype which is now possible in a total of 23 cases shows that the deletion of the terminal 1q leads to a definable multiple congenital anomalies/mental retardation (MCA/MR) syndrome. The phenotype is so characteristic that, as a rule, the clinical data should suggest the correct cytogenetic diagnosis.     

Langer–Giedion syndrome with interstitial 8q–deletion

We describe a 12-year-old girl with Langer-Giedion syndrome (tricho-rhino-pha-langeal syndrome type II) who also had vertebral malformations. Chromosome analysis identified an interstitial del(8q): 46,XX,del(8)(pter→q22::q234→qter) as a cause of this syndrome.     

Joubert syndrome: an affected female with bilateral colobomata

Joubert syndrome is an autosomal recessive disease characterised by hypoplasia or agenesis of the cerebellar vermis, a syndrome of episodic apnoea-hyperpnoea, rhythmic protrusion of the tongue, abnormal eye movements, hypotonia, ataxia, and psychomotor retardation. Extracerebral malformations include multicystic kidney disease, congenital hepatic fibrosis, sacral dermoid cyst and polydactyly. We report the clinical and pathological findings of a 15-year-old girl with Joubert syndrome diagnosed at autopsy. This patient had bilateral colobomata, which has not been previously described in females with Joubert syndrome.     

Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents.

We report on a Brazilian girl, born to consanguineous parents and presenting a multiple congenital anomaly (MCA) syndrome, mainly characterized by blepharophimosis, cleft palate, and arachnodactyly. The clinical aspects involving this patient suggest an apparently undescribed "new" autosomal recessive syndrome.     

Long term survival of a patient with the cerebro-hepato-renal (Zellweger) syndrome

A 13-year-old girl with severe mental retardation, tapetoretinal degeneration, an extinguished electroretinogram and sensoneurinal hearing loss is described. In early life the diagnosis of Zellweger (cerebro-hepato-renal) syndrome was considered because of hypotonia, craniofacial dysmorphia, abnormal liver functions and pipecolic aciduria. Biochemical studies in fibroblasts from the patient revealed a general peroxisomal dysfunction comparable to the findings in Zellweger Syndrome. As the clinical presentation of this patient is essentially different from that in classical Zellweger patients, who usually die early in life, we recommend the study of peroxisomal functions in all patients with severe mental retardation, tapetoretinal degeneration and sensoneurinal hearing loss.     

Craniosynostosis and kidney malformation in a case of Hennekam syndrome

Hennekam syndrome is a rare autosomal recessive syndrome which was described for the first time in 1989. Here, we present a girl with intestinal lymphangiectasia, severe lymphedema of limbs, seizures, mild mental retardation, and facial anomalies consistent with the diagnosis of Hennekam syndrome. In addition, she had an ectopic kidney and craniosynostosis of the coronal suture, 2 manifestations not previously reported in this syndrome. While the molecular basis of Hennekam syndrome remains, as yet, unknown, this report illustrates its variable clinical expression. © 1995 Wiley-Liss, Inc.     

Weaver syndrome in two Japanese children

We report on 2 Japanese patients (a 3-year-old girl and an 20-month-old boy) with the Weaver syndrome. The clinical manifestations are mild mental retardation, overgrowth with accelerated bone age, minor facial anomalies including broad forehead, mild hypertelorism, depressed nasal bridge, accentuated philtrum, micrognathia and large ears, and unique behavior characteristics with some social withdrawal. The nosology of the Weaver and Simpson–Golabi–Behmel syndromes is discussed.     

Bilateral vocal cord paralysis in Williams syndrome

Stewart FJ, Dalzell M, McReid M, Cinnamond MJ. Bilateral vocal cord paralysis in Williams syndrome.
Clin Genet 1993: 44: 164–165. © Munksgaard, 1993
Williams syndrome was first described in 1961 (Williams et al. 1961) and is a well-recognised clinical syndrome characterised by growth deficiency, learning difficulties and a typical facies. We describe a 9-year-old girl with classical features of Williams syndrome who presented with acute vocal cord paralysis for which no other cause was found.     

The acrocallosal syndrome

We report two unrelated patients, a three-year-old girl and an 8 8/12-year-old boy with the newly described “acrocallosal” syndrome. The main manifestations of the syndrome are unusual facial appearance, pre- and postaxial polydactyly, mental retardation, and absence of the corpus callosum. Cause remains unknown.     

Hoffman syndrome: New patients, new insights

Hypogammaglobulinemia or agammaglobulinemia are major features of specific syndromes, including X-linked agammaglobulinemia and common variable immunodeficiency. However, the combination of hypogammaglobulinemia with specific dysmorphic features is less common, with only a few reported cases. One such report was a sporadic case of humoral immunodeficiency, facial dysmorphism, and limb anomalies in a young girl, later referred to as Hoffman syndrome. We report on a 7-year-old girl with almost complete loss of B cells, facial dysmorphism, and malformation of the limbs and genitalia, whose mother shows similar dysmorphic features with an attenuated version of the B-cell deficiency. We believe that all three cases described above represent the same condition. The features of the three affected individuals with Hoffman syndrome are reviewed. Further investigations in this recently recognized B-cell immunodeficiency syndrome are warranted.     

Syndrome characterized by lingual malformation, Polydactyly, tachypnea, and psychomotor retardation (Mohr syndrome)

A 2-year-old girl, who at birth exhibited lingual malformation, Polydactyly, and tachypnea and who subsequently developed severe psychomotor retardation, is described. The syndrome corresponds to the Mohr syndrome and is compared with the oral-facial-digital (OFD) syndrome from a clinical and genetic point of view.     

The Dubowitz syndrome in a teenager

The Dubowitz syndrome has been recognized during the past few years as a new, distinct intrauterine growth-retardation syndrome with autosomal recessive inheritance. One new patient is presented, a 10½-year-old slightly mentally retarded girl.