[Iniencephaly: description of a case]. / Iniencefalia: descrizione di un caso.

We report on a spontaneously aborted female fetus with iniencephaly. Iniencephaly is an uncommon, but not rare, abnormality which is characterized by defect of the squamous part of the occipital bone, and body and arch of the cervical vertebrae; by prolapse of the brain from distended occipital foramen; by severe lordosis with consequent uptilting face; and often by spina bifida. Iniencephaly may be associated with several other defects. The fetus reported here had no other defects.

F-syndrome (F-form of acro-pectoro-vertebral dysplasia): report on a second family.

We report on a father and daughter in the second known family affected with F-syndrome. The first family, with 8 affected members, was reported by Grosse et al. [1969: BD:OAS V (3):48-63]. F-syndrome, an autosomal-dominant trait, is mainly characterized by acral defects that may also involve the sternum and the lumbosacral spine. Synostoses between capitate and hamate, and between talus and navicular, are invariably present; other carpal and tarsal bones are sometimes incorporated into the fusion. The hand malformation is principally a malformation of the first 2 rays. In our patients, the short and malformed thumb was webbed with the index finger, which was radially deviated with duplication of the middle and distal phalanges. In the feet, polydactyly and severe metatarsal and toe anomalies were present. The father had a prominent sternum with pectus excavatum, whereas the daughter had no sternal deformity. Both of them had a mild failure of fusion of posterior arch L5 and/or S1.

Synpolydactyly (type II syndactyly) with aplasia/hypoplasia of the middle phalanges of the toes: report on a family with eight affected members in four generations.

We describe a new family with synpolydactyly (syndactyly type II) with 8 affected members in 4 generations. Aplasia/hypoplasia of the middle phalanges of the toes was also noted. In our opinion, this anomaly represents a frequent manifestation of synpolydactyly. No other major skeletal or extraskeletal malformations were present.

Peters'-Plus syndrome: report on an unusual case.

We report on a 10 1/2-years-old patient with clinical manifestations of Peters'-Plus syndrome. The patient had Peters' anomaly, slightly arched eyebrows, long eyelashes, a broad nasal tip; malformed and prominent ears, cleft lip and palate, brachydactyly, fingertip pads, severe growth deficiency, and mild mental retardation. Peters' anomaly is a defect of the anterior chamber of the eye, including central corneal opacity, thinning of the posterior aspect of the cornea and iridolenticulocorneal adhesions. Peters'-Plus syndrome is a disorder in which patients with Peters' anomaly are also found to have short stature, brachymedia, abnormal ears, cleft lip and palate, and mental retardation. Our patient showed Peters'-Plus syndrome associated with some clinical manifestations of the Kabuki make-up syndrome.

[Isolated macrodactyly or extremely circumscribed Proteus syndrome?]. / Macrodattilia isolata o Sindrome di Proteus estremamente circoscritta?

We report on two unrelated female patients with unilateral macrodactyly of the 1st and 2nd toes and of the 3rd, 4th, and 5th toes, respectively. In addition, they had a local plantar soft tissue lump and radiographically abnormally broad phalanges of the affected toes. These clinical manifestations may represent either an isolated macrodactyly or an extremely localized form of Proteus syndrome.

Oral-facial-digital syndrome: report on a transitional type between the Mohr and Váradi syndromes in a fetus.

Oral-facial-digital syndromes (OFDS) constitute a heterogeneous group of entities whose clinical manifestations are often overlapping. We report on a 23-week-old aborted fetus who showed a transitional phenotype between OFD II and OFD VI syndromes.

[Oculodentodigital dysplasia: report of 2 familial cases]. / Displasia oculodentodigitale: presentazione di due casi familiari.

We describe a father and his child with bilateral syndactyly of fingers IV and V and with pinched nose, hypoplastic alae nasi and thin anteverted nares. The patients also showed a small nodule on the tongue tip. Both had no ocular or dental anomalies. The clinical features of our patients resemble those of the patients described by Brueton et al. The hypothesis that the oculodentodigital dysplasia may belong to a contiguous gene spectrum could be confirmed.

Sponastrime dysplasia: report on a male patient.

We report on a boy in the fourth family known to be affected with sponastrime dysplasia. The clinical and radiological features are presented. In this patient, the ossification delay was severe. The pattern of inheritance of this condition is discussed.

Peters'-Plus syndrome with agenesis of the corpus callosum: report of a case and confirmation of autosomal recessive inheritance.

We describe a male infant, born to healthy consanguineous parents, with Peters'-Plus syndrome. The syndrome includes corneal opacification, short stature, cleft lip and palate, low set ears, short hands and feet and mental retardation. Cranial CT scan showed agenesis of the corpus callosum which has not, to our knowledge, previously been described in Peters'-Plus syndrome patients. The consanguinity of the parents is in agreement with the proposed autosomal recessive inheritance.

[OEIS complex. Description of a case associated with cardiopathy]. / Complesso OEIS. Descrizione di un caso associato con cardiopatia.

We describe a newborn affected by OEIS complex (Omphalocele--Exstrophy of bladder--Imperforate anus--Spinal defect) associated with atrial septal defect. Terminal ileostomy, closure of the abdominal wall defect and suture of the cecal and vesical plates were performed. The patient died at 5 months and four days.

[Gingival "thickening" in malformation syndromes. I]. / "Ispessimento" gengivale nelle sindromi malformative. Parte I.

The etiology of generalized gingival enlargement is very heterogeneous. Pregnancy, drugs, systemic diseases, poor oral hygiene, and nutritional impairment can lead to gingival enlargement. This defect can also be presented in several malformation syndromes. Gingival fibromatosis, that may exist as an isolated abnormality or as part of a syndrome, is another condition with gingival enlargement. In this paper, the malformation syndromes with gingival hypertrophy and those with gingival fibromatosis are listed in tables.

Limb/pelvis-hypoplasia/aplasia syndrome (Al-Awadi/Raas-Rothschild syndrome): report of two Italian sibs and further confirmation of autosomal recessive inheritance.

A third family with two Italian neonates affected with limb/pelvis-hypoplasia/aplasia syndrome is reported. The disorder shows autosomal recessive inheritance.

[Single maxillary central incisor and holoprosencephaly]. / Incisivo mascellare centrale unico e oloprosencefalia.

A holoprosencephalic female was born to a mother with a single central maxillary incisor. The newborn had microcephaly, hypotelorism, cebocephaly, palatoschisis, micrognathia, and normal chromosomes. Her brain computed tomography showed alobar holoprosencephaly. The mother was of normal intelligence and stature, and her brain computed tomography was normal. Other relatives did not have single central maxillary incisors, hypotelorism, or oral clefts. We show a further evidence of a single central maxillary incisor as an indicator of potential holoprosencephaly in the next generation, confirming an autosomal dominant trait with wide variety in penetrance and expressivity.

[Dental abnormalities in cleidocranial dysplasia. Presentation of 4 cases]. / Anomalie dentarie nella displasia cleidocranica. Presentazione di quattro casi.

Four patients, three in the same family, with cleidocranial dysplasia, are reported. The birth of a male newborn with cleidocranial dysplasia has allowed to investigate his mother and grandmother with the same condition. An other 30-year-old patient with cleidocranial dysplasia is described. All the adult patients showed the main clinical manifestations of the disease with the peculiar abnormalities of the dentition.

[Pterygium of the elbow and post-axial polydactyly on the hands as sign of hereditary onyco-osteodysplasia: 4 familial cases]. / Pterigio dei gomiti e polidattilia post-assiale alle mani come segni di onico-osteo displasia ereditaria: quattro casi famigliari.

Four familial cases of HOOD syndrome are reported. A female newborn showed at birth dysplastic thumb-nails, small nails with triangular lunulae, post-axial polydactylyl at left hand, and hypoplasia of the patella. The mother and the mother's brother showed onycodysplasia, hypoplastic dislocated patella, joint contractures, iliac horns, bilateral post-axial polydactyly on the hand and antecubital pterygium. The patient's sister, born to another man, showed onico-osteo dysplasia without pterygium and polydactyly. The variable expressivity of the HODD syndrome and its association with polydactyly, pterygium and nephropathy are discussed.