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Revista do Hospital das Clínicas

On-line version ISSN 1678-9903

Rev. Hosp. Clin. vol.54 n.2 São Paulo Mar./Apr. 1999 






Lilian M. J. Albano, Chong A. Kim, Vivian K. Lee, Sofia M. M. Sugayama, Mário F. Barba, Cláudia Y. Utagawa, Débora Bertola and Claudette H. Gonzalez



ALBANO, L. M. J. et al. - Clinical and radiological aspects in Melnick-needles syndrome. Rev. Hosp. Clín. Fac. Med. S. Paulo 54 (2): 69-72,1999.


SUMMARY: Melnick-Needles syndrome is an X-linked dominant bone dysplasia, lethal in males, characterized by a typical facies and characteristic radiological findings: including sclerosis of skull base and mastoids, S-shaped appearance of tibia; cortical irregularities with a ribbon appearance of the ribs.

About 48 well-documented cases have been reported, most of them were sporadic. Parental transmission has been published in only 11 kindreds.

We are presenting the first Brazilian family with mother-daughter transmission.The proposita presented the typical clinical and radiological features with characteristic facies, severe thoracic cage restriction and pulmonary hypertension. Her mother was more mildly affected.


DESCRIPTORS: Melnick-Needles syndrome. Osteodysplasty.



Melnick- Needles syndrome is an X-linked dominant bone dysplasia, lethal in males, characterized by distintive facial appearance with prominent forehead, exophtalmus, full cheeks, micrognathia, malalignement of teeth and by typical radiological abnormalities: sclerosis of the skull base and mastoids; metaphyseal flaring; S-shaped appearance of tibiae; cortical irregularities with a ribbon appearance of the ribs; coxa valga and vertebrae with increase in height and anterior concavity.

Although most cases are sporadic, mother-daughter and mother-son transmissions have been reported. About 48 well-documented cases are reported. Only six mother/daughter transission cases have been identified5,6,10,15,17,18,19,20,21,22.

Thus, we report the seventh familial case of a mother-daughter transmission, to stress the typical radiological findings of this rare condition and also to emphasize that this severe generalized bone dysplasia can be associated with respiratory distress.



Case 1: C.E.J.M., a 14-year-old white female presented with a dry cough, recurrent sinusitis and tonsillitis, since the age of 4 years. She also had two episodes of pneumonia at 6 and 10 years of age. At 13 years of age, she developed a persistent cough, dyspnea, exercise intolerance and perypheral cyanosis. After three months, she required continuous oxygen supplementation. Due to her dysmorphic stigmata she was referred to the Genetics Unit at the age of 14. Her height was 133,5 cm and her weight 27 kg, both below the 2,5th percentile. Physical examionation revealed dysmorphic facies with prominent forehead, exophtalmus, strabismus, large ears, prominent nose, full and round cheeks, high narrow palate, small mandible and malaligned teeth, deformed flat chest, pectus excavatum with relatively small thoracic cage and thoracic scoliosis (Fig.1a e 1b). The tibiae were bowed and its malleolae prominent. Intellectual development was normal. Arterial blood gas analysis showed a pH of 7,47, a partial pressure of oxygen of 40,6 mmHg, a partial pressure of carbon dioxide of 37,1 mmHg and an oxygen saturation of 79,2% on roome air. Pulmonary function tests showed a severe restrictive ventilatory defect.


Figure 1 - Typical facial appearance:
a) Frontal and lateral view of the proposita (notice the small thoracic cage);
b) Mother and daughter (written permission was obtained from the mother to publish the photos)



a) Skull: bones of the cranial vault were irregularly thickened with sclerosis of the base, specially in the anterior/mid fossa and mastoids, "digital" impressions, but without other signs of increased intracranial pressure, enlarged sella turcica, hypertelorism, malaligned teeth, wide angle between horizontal and vertical ramii of the mandible.

b) Thorax: small thoracic cage, diffuse interstitial infiltrate with homogen opacities in the midportion of the right lung and base of the left lung; cardiac image was increased; sclerosis and cortical irregularity and ribbon appearance of the ribs with a severe bone demineralization of the ribs showing medullary cystic images in the first ribs; sclerosis, cortical irregularity and flaring of the clavicles (Fig.2a).


Figure 2 - Radiological findings of the proposita: a) Ribbon like appearance of the ribs, flaring and cortical irregularity of the clavicles.


c) Pelvis: narrow and poorly mineralized pelvis, hypoplasia of the rami ischia-pubis with narrowed obturator foramen, bilateral coxa valga, narrowed of the mid portion of iliac bones, widening of interpubic distance.

d) Vertebral column: inverted curvature with cervical lordosis and lombar kyphosis; lumbar vertebrae and lower thoracic vertebral bodies were high in relation to the antero-posterior diameter, and both their anterior and posterior surfaces were scalloped (Fig.2b).


b) Lumbar vertebrae and lower thoracic vertebral bodies higher in relation to the antero-posterior diameter with both anterior and posterior surfaces scalloped.


e) Long tubular bones: severe bone demineralization, diaphyseal bowing of radii, humeri and tibiae, metaphyseal flaring of the proximal ends of the humeri, ulnae, tibiae, metaphyseal flaring of the distal ends of the radii, femora and tibiae; tibiae S-shaped; genu valgus (Fig.2c ).


c) Metaphyseal flaring and tibiae S-shaped.


f) Hands and feet: diffuse bone demineralization with widened phalangeal medullary cavity and also of the distal portion of metatarsal and metacarpal bones. Bone age of 14 years old.

Computed tomographic scan of the chest revealed signs of severe pulmonary hypertension, intersticial thickening and atelectasis in left lower lobe due to thoracic cage restriction.

Case 2: Her mother (40 years old) weighed 65 Kg and her height was 156,5 cm. She was mildly affected, showing a similar facies to her daughter with right hypoplasia, prominent forehead, exophtalmus, prominent nose, full and round cheeks, high narrow palate, a small mandible, malaligned teeth, and right elbow movement limitation (Fig.1). Her radiological findings included: sclerosis of the base of skull, "digital" impressions without signs of increased intracranial pressure; mandible underdeveloped; some ribs, clavicles and long bones with ribbon-like waviness and cortical irregularity; and vertebral bodies taller in relation to the anterior-posterior distance (Fig. 3).


Figure 3 - Mother's patient mildly affected with ribbon-like waviness and cortical irregularity.




The typical facial appearance including as exophtalmus, micrognathia, full cheeks and malaligned teeth as well as the main roentgenographic manifestations (Table 1) of Melnick-Needles syndrome were present in our cases.


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Some authors have already reported pulmonary hypertension and recurrent pulmonary infections17,12,3,4,13,8,14 and most of them have considered the thoracic cage restriction a factor for the development of pulmonary hypertension. Klint et al.12 discussed that leucopenia and decreased levels of immunoglobulin A, could be related to the recurrent pulmonary infections observed. However our patient, the immunological investigation was normal, suggesting that an immunodeficiency is not the cause of recurrent infections in our patients.

The differential diagnosis of Melnick-Neddles syndrome includes Frontometaphyseal dysplasia1,13, Otopalatodigital type II syndrome2 and Serpentine fibulae associated with polycistic kidneys and other anomalies7,16 because of some similar radiological and clinical findings.

The inheritance in Melnick-Needles syndrome is consistent with an X-linked dominant condition, with lethality in males. There are however a few surviving male cases in this syndrome reported in the literature.

Although the majority of the cases are sporadic, mother- daughter transmission has already been reported17,19,21,10,15. Our familial report with a remarkable clinical and radiological intrafamilial variability, to the best of our knowledge, represents the 7th kindred in the literature with this form of transmission. Further studies should be done, in order to understand better this rare syndrome, specially when the features are not typical and parental transmission is observed. Molecular analysis, when it becomes available, will certainly help us to elucidate clinical variability in this condition.




ALBANO, L. M. J. e col. - Aspectos clínicos e radiológicos da síndrome de "Melnick-Needles" Rev. Hosp. Clín. Fac. Med. S. Paulo 54 (2): 69 - 72,1999.


A síndrome de Melnick-Needles é uma displasia esquelética ligada ao X e letal no sexo masculino. Caracteriza-se pela presença de um fácies típico e dos seguintes achados radiológicos: esclerose dos ossos da base do crânio e mastóide, tíbia em forma de "S"; irregularidades corticais e costelas com aspecto de fita ("ribbon-like"). A maioria dos 48 casos já relatados na literatura (bem documentados), eram esporádicos, observando-se transmissão parental em apenas 11 famílias. Estudamos a primeira família brasileira com transmissão mãe-filha, cuja propósita apresentava o fácies e as manifestações radiológicas características da síndrome, além de uma restrição pulmonar importante e hipertensão pulmonar. Sua mãe, também afetada, mostrava um quadro clínico e radiológico mais leves.


DESCRITORES: Síndrome de "Melnick-Needles". Aspectos clínicos e radiológicos.



1. BEIGHTON, P. & HAMERSMA, H. - Frontometaphyseal dysplasia: autosomal dominant or X-linked? J Med Genet 1980; 17:53-56.         [ Links ]

2. BLANCHET, P. et al. - Multiple congenital anomalies associated with an Oto-palatodigital syndrome type II. Genet Couns 1993; 4:289-294.         [ Links ]

3. DE LA CRUZ SEVILLA, E. et al - Osteodisplastia: Síndrome de Melnick-Needles: una variedad de displasia ósea - descripción de um caso nuevo. An Esp Pediat 1980; 13:704-709.         [ Links ]

4. DE TONI, T. et al. - La sindrome di Melnick-Needles: presentazione di un caso. Min Ped 1983; 35:447-454.         [ Links ]

5. DELEPORTE, .B. et al. - L'Osteodysplastie ou syndrome de Melnick et Needles: à propos d'une nouvelle observation. J Génét Hum 1985; 33:13-20.         [ Links ]

6. DONNENFELD, A. E. et al. - Melnick-Needles Syndrome in males: a lethal multiple congenital anomalies syndrome. Am J Med Genet 1987; 27:159-173.         [ Links ]

7. EXNER, G. U. - Serpentine fibula-polycystic kydney syndrome: a variant of the Melnick-Needles syndrome or a distinct entity? Eur J Pediatr 1988; 147:544- 546.         [ Links ]

8. FRYNS, J.P. et al. - Hyperlaxity in males with Melnick-Needles syndrome. Am J Med Genet 1988; 29:607-611.         [ Links ]

9. GORLIN, R .J. & KNIER, J. - X-linked or autosomal dominant, lethal in the male, inheritance of the Melnick-Needles (Osteodysplsty) Syndrome? a reappraisal. Am J Med Genet [letter] 1982; 13:465-467.         [ Links ]

10. GORLIN, R. J. & LANGER, L. O. - Melnick-Needles syndrome: radiographic alterations in the mandible. Radiology 1978; 128:351-353.         [ Links ]

11. HAMEL, B. C. J. et al. - Autosomal recessive Melnick-Needles syndrome or ter Haar syndrome? Report of a patient and reappraisal of an earlier report. Am J Med Genet 1995; 56:312-316.         [ Links ]

12. KLINT, R. B. et al. - Melnick-Needles osteodysplasia associated with pulmonary hypertension, obstructive uropathy and marrow hypoplasia. Pediatr Radiol 1977; 6:49-51.         [ Links ]

13. KRAJEWSKA-WALASEK, M. et al. - Melnick-Needles syndrome in males. Am J Med Genet 1987; 27:153-158.         [ Links ]

14. KRüGER, G. et al. - Mitral valve and tricuspidal valve prolapse in Melnick-Needles syndrome. Eur J Pediatr [letter] 1991; 150:150-158.         [ Links ]

15. LAMONTAGNE, A. E. - Urological manifestations of the Melnick-Needles syndrome: a case report and review of the literature. J Urol 1991; 145:1020-1021.         [ Links ]

16. MAJEWSKI, F. et al. - Serpentine fibula-polycystic kidney syndrome and Melnick-Needles syndrome are different disorders. Eur J Pediatr 1993; 152:916-921.         [ Links ]

17. MELNICK, J. C. & NEEDLES, C. F. - An undiagnosed bone dysplasia: a 2 family study of 4 generaions and 3 generations. Am J Med Genet 1966; 97:39-48.         [ Links ]

18. NEOU, P. et al. - Melnick-Needles syndrome in a mother and her son. Genet Couns 1996; 7:123-129.         [ Links ]

19. NIHAN, W. L. & Sakati, N. O. - Melnick-Needles syndrome (osteodysplasty). In: Genetic and malformation syndromes in clinical medicine. Chicago, Med Pub, p. 427-429. 1976.         [ Links ]

20. THEANDER, G. & EKBERG, O. - Congenital malformations associated with maternal osteodysplasty: a new malformation complex. Acta Radiol 1981; 22:369- 377.         [ Links ]

21. VANEK, J. et al. - Osteodysplastie. Acta Chir Orthop Traumatol Cech 1976; 43:30-52.         [ Links ]

22. VON OEYEN, P. et al. - Omphalocele and multiple severe congenital anomalies associated with Osteodysplasty (Melnick-Needles syndrome). Am J Med Genet 1982; 13:453-463.         [ Links ]



Received for publication on the 26/03/99


Research developed in the Infectious Diseases Pathology Laboratory (LIM-50) of the Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo.

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