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PubMed1996

Unique case of growth hormone (GH) deficiency accompanied by clinical anophthalmia, hypoplastic orbits, digital dysplasia, short stature, obesity, and diabetes mellitus.

A 43-year-old female was admitted to our hospital for polydipsia and hyperglycemia. She had total blindness and globes were not recognized by inspection, indicating clinical anophthalmia. Physical examination revealed short stature, obesity, prematurely gray hair, shortness of fingers and toes, syndactyly, and multiple dental caries. Laboratory examination showed hyperglycemia, increased glycosilated hemoglobin (HbA1c) and insulin resistance on euglycemic glucose clamp. Blunted growth hormone (GH) secretion was shown in response to insulin-induced hypoglycemia, arginine infusion, and GH-releasing hormone (GHRH) loading test, and in 24 h spontaneous GH profile. Magnetic resonance imaging (MRI) and computed tomography (CT) showed dysostosis of orbit, defect of optic nerve, enlarged suprasellar cistern, and prolonged pituitary stalk. This may be the first report of a unique case with GH deficiency accompanied by clinical anophthalmia, hypoplastic orbits, digital dysplasia, short stature, obesity, and diabetes mellitus.

Abnormalities, Multiple↗
PubMed1996

Craniosynostosis suggestive of Saethre-Chotzen syndrome: clinical description of a large kindred and exclusion of candidate regions on 7p.

We describe the clinical manifestations of an autosomal dominant form of craniosynostosis in a large family with eight affected relatives. Unilateral or bilateral coronal synostosis, low frontal hair line, strabismus, ptosis, and partial cutaneous syndactyly of fingers and toes are findings suggestive of the diagnosis of Saethre-Chotzen syndrome. The disease locus was excluded from the two adjacent Saethre-Chotzen candidate regions on 7p by linkage analysis with markers D7S664 and D7S507. This indicates heterogeneity of Saethre-Chotzen syndrome with a locus outside the candidate regions on 7p.

Acrocephalosyndactylia↗
PubMed1996

Leiomyoma of uterus in a patient with ring chromosome 12: case presentation and literature review.

We report on a 30-year-old women with de novo ring chromosome 12 mosaicism, 46,XX, r(12)(p13.3q24.3)/46,XX. In addition to the clinical manifestations generally observed in "ring syndrome" cases such as growth retardation, short stature, microcephaly, and mental deficiency, she had a broad nasal bridge, micrognathia with overbite, underdeveloped breasts, mild dorsal scoliosis, clinodactyly of the fifth fingers with a single interdigital crease, symphalangism of thumbs, tapering fingers, mild cutaneous syndactyly between the second and third toes, multiple café-au-lait spots, sebaceous acne on the face and back, and mild dystrophic toenails. She developed a large, pedunculated uterine leiomyoma at age 28 years. To our knowledge, uterine leiomyoma in association with r(12) has not been reported previously. However, a gain of chromosome 12 and translocations involving 12q14-15 have been described.

Abnormalities, Multiple↗
PubMed1997

Ritscher-Schinzel (3C) syndrome: documentation of the phenotype.

Ritscher-Schinzel syndrome or 3C (craniocerebello-cardiac) syndrome is characterized by cardiac defects, cerebellar vermis hypoplasia, and cranial defects. Nineteen cases were reported previously; however, the full spectrum of this disorder has not been determined. We have evaluated two unrelated males with this condition. Both had defects of the endocardial cushion and vermis hypoplasia with hypotonia. In addition, both had hypospadias, a previously undescribed finding of this disorders. Review of the previously reported cases and those described herein demonstrate: 1) Although varying degrees of vermis hypoplasia are accompanied by hypotonia, delayed gross motor function improves with advancing age leaving speech delay as the major neurodevelopmental handicap. 2) Two different types of cardiac anomalies occur: defects of the endocardial cushion ranging from anomalies of the mitral or tricuspid valves to complete AV canal, and/or conotruncal defects. 3) Postnatal growth deficiency was seen in most patients in whom longitudinal information was available. In our review of patients with vermis hypoplasia we ascertained a patient diagnosed as having "Joubert syndrome" who had most findings of the Ritscher-Schinzel syndrome and several other patients with "Dandy-Walker syndrome" who likely have had Ritscher-Schinzel syndrome, suggesting that Ritscher-Schinzel syndrome is more common than has been appreciated. Careful search for the subtle facial changes characteristic of this disorder as well as coloboma, cleft palate/bifid uvula, short neck, syndactyly, and hypoplasia of the nails is warranted when evaluating children with Dandy-Walker malformation with or without clinical signs of Joubert syndrome.

Abnormalities, Multiple↗
PubMed1997

Digital anomalies, microcephaly, and normal intelligence: new syndrome or Feingold syndrome?

We present four patients-two boys and their mother and an unrelated girl-with microcephaly, normal intelligence, and digital abnormalities. The hand abnormalities are characterized by brachydactyly with radial clinodactyly of the fourth and fifth fingers, ulnar clinodactyly of the second fingers, and an increased space between the second and third fingers associated with an abnormal palmar crease that extends to the ulnar border. The foot abnormalities include short toes with syndactyly of the fourth and fifth toes. The mother has normal intelligence, and her sons and the unrelated girl have normal development. Although similar digital abnormalities, microcephaly, and normal intelligence were described by Feingold in patients with gastrointestinal atresia, we think that our patients' findings represent a different condition. The most likely mode of inheritance is autosomal dominant. The clinical recognition of this syndrome will allow for appropriate genetic counseling as well as provision of information on natural history, i.e., normal intelligence.

Abnormalities, Multiple↗
PubMed1997

Another "new" form, the palagonia type of acrofacial dysostosis in a Sicilian family.

We described another previously apparently unreported form of acrofacial dysostosis (AFD) from Sicily, residing, coincidentally in the same small village as that with the recently delineated Catania AFD. In contra-distinction to the latter, the 4 patients with the Palagonia form of AFD are of normal intelligence, and instead of extensive caries have oligodontia (4), short stature (3), frizzy hair (pili torti) with aplasia cutis verticis (1), mild cutaneous syndactyly of digits 2-5 (4), attenuation of the 4th metacarpals (3/3), unilaterally cleft lip (1), and some vertebral anomalies such as a large atlas (1), mild scoliosis (1), small odontoid process, spina bifida occulta at S1 (1). Casually, this would appear to be an iceberg dominant disorder, with the proposita most severely affected. This could be an X-linked dominant, but more likely an autosomal dominant trait.

Abnormalities, Multiple↗
PubMed1997

Autosomal dominant microcephaly with normal intelligence, short palpebral fissures, and digital anomalies.

We describe a family segregating an autosomal dominant mutation producing a syndrome comprising microcephaly with normal intelligence and short palpebral fissures together with variable signs including thumb hypoplasia, shortness of the middle phalanges of the second and fifth fingers, small feet, a gap between the first and second toes, and mild syndactyly of the toes or fingers. A characteristic radiologic finding in our family is thinning of the proximal end of the first metacarpal and shortening of that metacarpal. The severity of these findings was asymmetric in our patients. This syndrome is similar to patients described by Brunner and Winter [1991: J Med Genet 28: 389-394], Feingold [1975: Synd Ident 3:16-17, 1978: Hosp Prac 13:44-49], and König et al. [1990: Dysmorphol Clin Genet 4:83-86].

Child, Preschool↗
PubMed1997

MODED: microcephaly-oculo-digito-esophageal-duodenal syndrome.

We report on 4 families with microcephaly, type A brachydactyly, variable learning disabilities, short stature, duodenal atresia, patent ductus arteriosus (PDA), hallux valgus, restricted elbow and finger movements, and amesophalangy and syndactyly of toes. Three previous families manifested all signs of the syndrome, and in another four reports the phenotype was incomplete. These cases are reviewed. Penetrance of digital and toe anomalies is almost complete and microcephaly is present in 78% of known cases. Short stature was present in 70% of our cases, but this is probably an overestimation. Esophageal and duodenal atresias were present in 25% of known cases. Correction for ascertainment bias gave a lower estimate of 16.6%. Learning disabilities were present in 31% of all patients. Longitudinal follow-up suggested that hypoplasia or absence of the diaphyseal ossification centers is the primary cause of the phalangeal changes. Observations in a 9-year-old girl, followed since age 3.3, suggest that the eventual absence of the middle phalanges of the toes may be caused by fusion.

Abnormalities, Multiple↗
PubMed1997

Skeletal anomalies and deformities in patients with deletions of 22q11.

Skeletal anomalies in patients with a 22q11.2 deletion are reported infrequently. We report the skeletal findings in 108 patients with a 22q11.2 deletion, of whom 37 (36%) had a skeletal anomaly. Twenty-two patients (20%) had anomalies of the limbs, 7 of the upper limb, including preaxial or postaxial polydactyly. An anomaly of the lower limb was found in 16 patients, including postaxial polydactyly, clubfoot, severely overfolded toes, and 2-3 toe cutaneous syndactyly. Chest films of 63 patients were examined; 30% of them had abnormal findings, most commonly supernumerary ribs (17%) or a "butterfly" vertebral body (11%). Hypoplastic vertebrae, hemivertebrae, and vertebral coronal clefts were also noted. Thus, skeletal anomalies are not uncommon in patients with a 22q11.2 deletion and may occur more frequently than recognized previously.

Adolescent↗
PubMed1997

Progeroid syndrome with characteristic facial appearance and hand anomalies in father and son.

We report on the father-to-son transmission of a progeroid syndrome characterized by facial anomalies, sparse subcutaneous fat, and hand anomalies including syndactyly, camptodactyly, and finger deviation. Mild mental retardation, microcephaly, and congenital heart defect were found only in the son. To our knowledge, this syndrome has not been described previously.

Abnormalities, Multiple↗
PubMed1998

Syndrome of facial, oral, and digital anomalies due to 7q21.2-->q22.1 duplication.

We report on an 18-year-old man with moderate mental retardation, multiple congenital anomalies and partial trisomy 7q21.2-->q22.1, as the unbalanced product of a familial balanced 7q/6q insertion translocation. To the best of our knowledge, this is the first example of interstitial trisomy 7q21.2-->q22.1 reported. The syndrome is characterized by the presence of facial, oral, and digital anomalies: 1) macrocephaly with frontal bossing, hypertelorism, small palpebral fissures with downward slant; 2) lobulated tongue, multiple intrabuccal frenula, oligodontia and enamel hypoplasia; 3) cutaneous syndactyly of fingers II-III and III-IV, broad and short fingertips with fetal pads, broad thumbs, and halluces.

Abnormalities, Multiple↗
PubMed1999

Two cases with interstitial deletions of chromosome 2 and sex reversal in one.

We present two children with de novo interstitial deletions of the long arm of chromosome 2 (karyotypes 46,XY, del(2)(q31.1q31.3) and 46,XY, del(2)(q24.3q31.3), respectively). The first child had severe learning difficulties, growth retardation, unilateral ptosis, small palpebral fissures, a cleft uvula, and bilateral cutaneous syndactyly of the second and third toes. Despite her male karyotype, she had female external genitalia with hypoplasia of the clitoris and labia minora. This is the first reported case of feminization of the external genitalia in a genotypic male with an interstitial deletion of chromosome 2q31 and adds to the growing amount of evidence for a gene involved in sex determination in this chromosome region. The second child had severe mental and growth retardation, ptosis, down-slanting palpebral fissures, low-set ears, micrognathia, finger camptodactyly, and brachysyndactyly of the second to fifth toes. The clinical manifestations associated with deletions of 2q31 to 2q33 are similar to those found with proximal deletions at 2q24 to 2q31 and of band 2q24, suggesting that the phenotype may result from haploinsufficiency for one or more genes located at 2q31. Microsatellite marker studies showed that both children had paternally derived deletions that included the HOXD gene cluster and the EVX2, DLX1, and DLX2 genes known to be important in limb development.

Abnormalities, Multiple↗
PubMed1999

Discordance of oral-facial-digital syndrome type 1 in monozygotic twin girls.

The oral-facial-digital syndrome type 1 (OFD1) includes limb, facial, intraoral malformations and the gene for the disorder was recently mapped to Xp22.3-p22.2. We report on monozygotic twin girls discordant for OFD1. Monozygosity is supported by placental pathology (monochorionic diamniotic) and molecular studies with probability of dizygosity <1 x 10(-6). The affected twin has oral cavity abnormalities including median cleft lip, cleft palate, lobulated hamartomatous tongue, aberrant hyperplastic oral frenula, alveolar notches, and absent lateral incisors. Facial manifestations include telecanthus, hypoplastic alae nasi, and transient neonatal facial milia. The patient also has short and deviated fingers with partial cutaneous syndactyly. At 10 years, she has not had central nervous system or kidney problems. X-inactivation study revealed similar X-inactivation patterns in the lymphoblasts of both twins. We conclude that skewed X-inactivation is an unlikely cause for the discordance, which is more likely due to a postzygotic mutation in the affected twin.

Child↗
PubMed2000

Holoprosencephaly, hypertelorism, and ectrodactyly in a boy with an apparently balanced de novo t(2;4) (q14.2;q35).

A holoprosencephaly, hypertelorism, and ectrodactyly syndrome (HHES) was described in three previous cases in whom chromosomes were apparently normal. We report on a 3-year-old boy with HHES and a de novo apparently balanced t(2;4)(q14.2;q35) confirmed by fluorescent in situ hybridization. He had severe growth and mental retardation, lobar holoprosencephaly, hypertelorism, microphthalmos, and iris, choroid, and retina colobomata. Less-severe facial involvement correlates with the semilobar type of holoprosencephaly; limb defects consisted of foot ectrodactyly and syndactyly. All previous HHES cases were sporadic and of unknown cause. A cryptic imbalance secondary to the translocation (2;4) in our patient may explain the phenotype.

Abnormalities, Multiple↗
PubMed1997

Full monosomy 21, prenatally diagnosed by fluorescent in situ hybridization.

We describe a case of full monosomy 21 which was prenatally diagnosed in chorionic villi by fluorescent in situ hybridization (FISH). Because of intrauterine fetal death, a curettage was performed and cytogenetic analysis of skin fibroblasts confirmed the presence of monosomy 21 in fetal cells. DNA investigations showed a paternal origin of the single chromosome 21. Inspection and autopsy of the fetus revealed several congenital malformations. Some of them have been reported in earlier studies of monosomy 21; others concern new observations. Regarding the eye, the following abnormalities were microscopically observed: absence of the anterior and posterior eye chambers, aniridy, a hypoplastic ciliary body, Peter's anomaly, and a double retina with secondary dysplasia. In addition, malformations of the extremities were seen: partial, proximal syndactyly of digits 3 and 4 of the right hand; pes varus position of the right foot; and transverse reduction defect at the tarsals of the left foot. To our knowledge, this is the first case in which full monosomy 21 has been proven.

Abnormalities, Multiple↗
PubMed1997

Prenatal ultrasonographic and molecular diagnosis of Apert syndrome.

Apert syndrome is a rare craniosynostosis syndrome with significant bilateral syndactyly of the hands and feet. Usually it is detected by ultrasonography during the third trimester unless there is a family history. We present an interesting sporadic case with features consistent with Apert syndrome detected as early as the first trimester. A first-trimester ultrasound evaluation prior to chorionic villus sampling (CVS) for maternal age 41 was within normal limits except for the suggestion of a 'mitten-like' hand and proximally placed thumb. Mid-trimester ultrasound was not diagnostic; however, following the development of polyhydramnios in the third trimester, the evaluation of the digits and facial features were strongly suggestive of Apert syndrome. Amniocentesis was performed and a molecular diagnosis of Apert syndrome was made and confirmed on cord blood.

Acrocephalosyndactylia↗
PubMed1998

Triploidy: antenatal sonographic features with post-mortem correlation.

A retrospective study was performed comparing the antenatal ultrasound (US) scan features with post-mortem findings in 20 triploid fetuses surviving beyond the first trimester. US scans showed a range of abnormalities including oligohydramnios (60 per cent of cases), intra-uterine growth retardation (IUGR, 55 per cent), central nervous system (CNS) abnormalities (45 per cent), and placental abnormalities (55 per cent). There were obstetric complications in 30 per cent of cases. Post-mortem examinations confirmed these findings but also demonstrated additional anomalies including facial dysmorphism, limb abnormalities (syndactyly, talips equinovarus and thigh muscle hypertrophy), and anomalies of cardio-vascular, respiratory and genito-urinary system. The placenta was normal in 16 per cent of cases, enlarged with cystic change in 47 per cent, small in 32 per cent and infarcted in 5 per cent of cases. Various factors including oligohydramnios, abnormal fetal position, less sophisticated equipment in mid-1980s and relative inexperience of early observers contributed to the reduced sensitivity of US scans in diagnosis of various defects. However, triploidy should be considered in all cases showing early second-trimester IUGR with or without oligohydramnios, a major CNS abnormality and/or an enlarged placenta with or without changes of partial hydatidiform mole. As triploidy is associated with increased obstetric complications, fetal karyotyping should be offered to confirm the diagnosis so that appropriate obstetric intervention can be instituted.

Abnormalities, Multiple↗
PubMed2000

Lenz-Majewski hyperostotic dwarfism: reexamination of the original patient.

In 1974, Lenz and Majewski gave a short description of a 2-year-old girl with generalized hyperostosis, proximal symphalangism, syndactyly, brachydactyly, cutis laxa, mental retardation, marked hypertelorism, and enamel hypoplasia. This disorder was later named Lenz-Majewski hyperostotic dwarfism. We describe the reexamination of the original patient at the age of 30 years.

Abnormalities, Multiple↗